Social problems of human genetics Kashapov Fedor Adeevich. Basic problems of genetics Modern problems of genetics
BELORUSSK2nd STATE UNIVERSITY
DEPARTMENT OF PHILOSOPHY AND SCIENCE METHODOLOGY
ABSTRACT ON PHILOSOPHY AND METHODOLOGY OF SCIENCE
Topic No. 179
« Worldview and socio-ethical problems of human genetics »
Graduate students
Department of Biophysics
physical faculty
Rooster M.G.
INTRODUCTION
The 20th century became the century of the greatest discoveries in all fields of natural science, the century of the scientific and technological revolution, which changed both the appearance of the Earth and the appearance of its inhabitants. Science and, in particular, biology and medicine have received enormous opportunities to intervene in the existence of biological objects and humans, to make radical changes in the natural conditions surrounding them. This made it possible, along with hopes, to express concerns related to the limits of acceptable manipulation of biological processes, especially those related to humans. Today, bioethics can be considered as a form of such preventive knowledge.
Perhaps one of the main branches of knowledge that will determine the shape of our world in the coming centuries is genetics. Genetics is one of the main, most fascinating and at the same time complex disciplines of modern natural science. The place of genetics among the biological sciences and the special interest in it are determined by the fact that it studies the basic properties of organisms and thus provides incredible benefits to humanity. The latest achievements of genetics have opened up broad prospects for the development of biotechnology, thereby giving rise to many disputes and contradictions of an ideological and socio-ethical nature.
According to Kant, man is “a being endowed with feelings and reason.” And thanks to this, taken also as a person, he “is a being capable of taking on obligations.” All obligations of a person in relation to himself, and thereby in relation to the environment, since otherwise the existence of a person as an individual is impossible, are ethical obligations. Having once developed codes and commandments, humanity saved itself, but was and is its behavior always reasonable? What danger could threaten him today? Does a person have the right to change what is created by nature? Does she have the right to correct her mistakes and, if so, where is the line that cannot be crossed? Will scientific knowledge turn into a disaster for all humanity, as happened when the energy of the atom was discovered, which destroyed Hiroshima, Nagasaki and Chernobyl? There are no clear answers to these questions.
Historical progress makes it possible to humanize social ties and optimize the interaction between society and nature, man and the environment, and consciously regulate the relationship between the social and the biological.
The biological and the social, for all their interdependence, are in many ways different spheres of existence. There are patterns in each of these areas. It is necessary to find a real, concrete way of interaction between the biological and the social, in which both would not be identified with each other and would not be separated from each other, that is, to reveal the specificity of each of these spheres of existence and at the same time the continuity, the relationship between them.
The interaction of the biological and the social is very clearly manifested in human mental activity, in the field of consciousness. The theory, sociology and ethics of biological knowledge penetrate into the very “body” of science. They become a necessary attribute of biological thinking, determine the progress of biological knowledge and the entire complex of sciences that make it possible to study humans.
Therefore, in this work an attempt is made not only to identify the problems of human genetics themselves, but also, if possible, to reflect different points of view on them.
1 BRIEF HISTORY OF GENETICS
Formed in the course of evolution, modern man already had an extremely complex brain, as if in anticipation of future tasks that would confront him many millennia later, when it would be necessary to use the laws of quantum mechanics to master the energy of the atom and to understand the laws of celestial mechanics in order to land on the neighboring celestial planet. body; or develop biotechnological methods for cloning organisms in case of sheltering from the possible danger of depopulation threatening in the future with a theoretically permissible loss of the ability to sexually reproduce. In this series of human temptations to control the world around us, what stands out is his claim to a special type of creativity - the creation of living forms. By historical standards, this began not so long ago.
The origins of genetics, like any science, should be sought in practice. Genetics arose in connection with the breeding of domestic animals and the cultivation of plants, as well as with the development of medicine. Since man began to use the crossing of animals and plants, he was faced with the fact that the properties and characteristics of the offspring depend on the properties of the parent individuals chosen for crossing. By selecting and crossing the best descendants, man from generation to generation created related groups - lines, and then breeds and varieties with their characteristic hereditary properties.
Although these observations and comparisons could not yet become the basis for the formation of science, the rapid development of animal husbandry and breeding, as well as plant growing and seed production in the second half of the 19th century gave rise to increased interest in the analysis of the phenomenon of heredity.
The development of the science of heredity and variability was especially strongly promoted by Charles Darwin's doctrine of the origin of species, which introduced into biology the historical method of studying the evolution of organisms. Darwin himself put a lot of effort into studying heredity and variability. He collected a huge amount of facts, based on them he made a number of correct ones, but he was unable to establish the laws of heredity. His contemporaries, the so-called hybridizers, who crossed various forms and looked for the degree of similarity and difference between parents and descendants, were also unable to establish general patterns of inheritance.
The first truly scientific step forward in the study of heredity was made by an Austrian monk Gregor Mendel, who in 1866 published an article that laid the foundations of modern genetics. Mendel showed that hereditary inclinations do not mix, but are transmitted from parents to descendants in the form of discrete (separate) units. These units, presented in pairs (alleles) in individuals, remain discrete and are transmitted to subsequent generations in male and female gametes, each of which contains one unit from each pair. Subsequently, the Danish botanist Johansen named these units "genes".
The official date of birth of geneticists is considered to be 1900, when the data of G. de Vries, K. Correns and K. Chermak were published, which actually rediscovered the patterns of inheritance of traits established by G. Mendel. The first decades of the 20th century turned out to be extremely fruitful in the development of the basic principles and directions of genetics. The idea of mutations, populations and pure lines of organisms, the chromosomal theory of heredity was formulated, the law of homological series was discovered, data on the occurrence of hereditary changes under the influence of X-rays were obtained, and the development of the foundations of the genetics of populations of organisms began. The first gene to be localized was the color blindness gene, mapped to the sex chromosome in 1911. In 1953, an international scientific journal published an article by biologists James Watson and Francis Crick on the structure of deoxyribonucleic acid (DNA), one of the substances constantly present in chromosomes. Research on the structure of the cell, the functions of proteins, and the structure of nucleic acids has confronted researchers with the temptation to construct a gene artificially. This was undertaken by a group of biochemists from the Massachusetts Institute of Technology, led by Nobel Prize winner Dr. Gan Gabind Korana. By 1970, they managed to construct a DNA segment of 85 nucleotide pairs, and in 1976 a message appeared that for the first time an artificial gene had worked. Already in 1988, gene therapy was used for the first time.
At the end of the 20th century, genetics came close to solving one of the fundamental questions of biological science - the question of completely deciphering hereditary information about a person.
220 scientists from different countries, including five Soviet biologists, took part in the implementation of a grandiose project to decipher the genetic code of DNA, called HUGO (Human Genome Organization).
The idea of organizing such a program was first put forward in 1986. Then the idea seemed unacceptable: the human genome, that is, the totality of all its genes, contains about three billion nucleotides, and in the late 80s the cost of determining one nucleotide was about 5 US dollars. In addition, the technologies of the 80s allowed one person to determine no more than 100,000 nucleotides per year. However, already in 1988, the US Congress approved the creation of an American research project in this area; the program manager, J. Watson, defined its prospects as follows: “I see an exceptional opportunity for the improvement of humanity in the near future.” By 1990, the number of identified genes reached 5,000, of which 1,825 were mapped and 460 were sequenced. It was possible to localize genes associated with severe hereditary diseases, such as Alzheimer's disease, Duchenne muscular dystrophy, and cystic fibrosis. One of the important achievements was the discovery of the so-called polymerase chain reaction, which makes it possible to obtain a volume of DNA sufficient for genetic analysis from microscopic amounts of DNA in a few hours. Devices have been created that can sequence (from the Latin sequi - follow) up to 35 million nucleotide sequences per year. Thus, the human genome research project is of enormous importance for studying the molecular basis of hereditary diseases, their diagnosis, prevention and treatment.
Today, scientists can cut a DNA molecule in a test tube at the desired location, isolate and purify its individual fragments, synthesize them from two deoxyribonucleotides, and can stitch such fragments together. The result of such manipulations are “hybrid” or recombinant DNA molecules that did not exist in nature before. The emerging prospects for the synthesis of living matter attract great attention from geneticists, biochemists, physicists and other specialists.
Modern genetics has provided new opportunities for studying the activity of the body: with the help of induced mutations, you can turn off and turn on almost any physiological processes, interrupt the biosynthesis of proteins in the cell, change morphogenesis, stop development at a certain stage, allows you to more deeply study population and evolutionary processes, study hereditary diseases , the problem of cancer and much more. In recent years, the rapid development of molecular biological approaches and methods has allowed geneticists not only to decipher the genomes of many organisms, but also to design living beings with specified properties. Thus, genetics opens up ways to model biological processes.
2 DEFINITION AND MAIN TASKS OF GENETICS
Genetics is the science of the laws of heredity and variability, as well as the biological mechanisms that ensure them. Genetic research pursues two kinds of goals: understanding the patterns of heredity and variability and finding ways to practically use these patterns. Consequently, the main directions of research by genetic scientists are the study of nucleic acid molecules, the custodians of hereditary information, the study of the mechanisms and patterns of transmission of genetic information from generation to generation, the study of mechanisms for the implementation of genetic information into specific characteristics and properties of organisms, the elucidation of the causes and mechanisms of changes in genetic information at different stages of development of organisms.
Genetics as a science solves the following main problems:
1. studies ways of storing genetic information in different organisms and its material carriers;
2. analyzes ways of transmitting hereditary information from one generation to another;
3. identifies mechanisms and patterns of implementation of genetic information in the process of individual development and the influence of external environmental conditions on them;
4. studies the patterns and mechanisms of variability, as well as its role in adaptive reactions and in the evolutionary process;
5. seeks ways to correct damaged genetic information.
According to many modern biologists, genetics has become the core of all biological science. It combines embryology and developmental biology, morphology and physiology into a single whole. Based on genetic research, new fields of knowledge (molecular biology, molecular genetics), corresponding biotechnologies (such as genetic engineering) and methods (for example, polymerase chain reaction) have emerged that make it possible to isolate and synthesize nucleotide sequences, integrate them into the genome, and obtain hybrid DNA with properties that did not exist in nature. Many drugs have been obtained, without which medicine is no longer conceivable. Principles for breeding transgenic plants and animals with characteristics of different species have been developed.
3 AREAS OF APPLICATION OF GENETICS
The information accumulated by modern experimental genetics makes it possible to state that information genetic systems arose on the basis and as a result of the self-development of biologically organized matter (and this, in fact, is the essence of the process of the evolution of life). The very concept of “genetic information” as a term was adopted in 1944 after the publication of E. Schrödinger’s book “What is life? From a physicist's point of view? Genetic information is recorded on bioorganic macromolecules - DNA and RNA; it arose on the lifeless Earth several billion years ago, gave birth to living beings, ensured their variability and evolution, populated the planet with them and formed its biosphere. Genetic information dictates how organisms survive, grow, and reproduce. Genetic engineering interferes with this process. The very phenomenon of genetic engineering, which arose at the will of man, is described by various terms: “genetic manipulation”, “genetic modification”, “recombinant DNA technology” and even “modern biotechnology”. The fundamental feature of genetic engineering is the ability to create DNA structures that are never formed in living nature. Genetic engineering has overcome the barrier that exists in the living world, where genetic exchange occurs only within one species or closely related species of organisms. It allows genes to be transferred from one living organism to any other. This new technique opened up limitless prospects for creating microorganisms, plants and animals with new beneficial properties.
Genetic engineering uses the most important discoveries of molecular genetics to develop new research methods, obtain new genetic data, and also in practical activities, in particular in medicine. For example, previously vaccines were made only from killed or weakened bacteria or viruses that could induce immunity in humans due to the formation of specific antibody proteins. Such vaccines lead to the development of lasting immunity, but they also have disadvantages. For example, one cannot be sure that the virus is sufficiently inactivated. There are known cases when the vaccine strain of the polio virus, due to mutations, turned into a dangerous one, close to the usual virulent strain.
It is safer to vaccinate with pure proteins of the shells of viruses - they cannot multiply, because they do not have nucleic acids, but cause the production of antibodies. They can be obtained using genetic engineering methods.
If by the early 80s the term “genetic engineering” was hardly known outside research laboratories, today public opinion has already become polarized: there are both supporters of genetic manipulation and opponents, calling for caution in the choice of these means that can change a person’s life with with far greater consequences than previous scientific and technological breakthroughs.
3.1 Gene therapy
Gene therapy is a complex of therapeutic measures based on the introduction of transgenes into a diseased body. Functioning in cells, they can have a therapeutic effect by: 1) compensating for a congenital or acquired genetic defect, 2) reducing the synthesis of “harmful” protein in the body and, 3) suppressing the function of a “sick” gene. The “devices” or vectors that introduce a transgene into the body’s cells are harmless viruses into which the desired transgene is pre-built. By infecting and developing in the body, the vector virus activates the “therapeutic” transgene.
The emerging successes in the etiological treatment of hereditary and congenital diseases using gene therapy have led to the emergence of a new direction, a kind of “molecular prosthetics”. This area is steadily gaining strength not only in laboratories, but also in clinics. Somatic gene therapy involves the introduction of a “corrected” gene variant simultaneously into a large number of cells in an adult body, without the changes being passed on to offspring. Fetal gene therapy involves manipulating the genetic code of an embryo, which promises to enable the transmission of an already corrected gene variant to subsequent generations. Genetic prenatal diagnostics are widely used for a number of monogenetic diseases, for example, phenylketonuria, hemophilia, sickle cell anemia, etc.
3.2 Stem cells
Stem cells are living cells that are capable of dividing without time limits and turning into any of the tissues of the body. They can be obtained from several types of sources. The most promising source of stem cells is the blastocyst, an embryo at an early stage of development (5-6 days after fertilization). The blastocyst consists of an outer layer of cells that will become the placenta, and an inner cell mass that will divide and specialize to form all the tissues of the body. The inner cell mass is isolated in the laboratory and grown in a nutrient medium into a colony of “pluripotent” stem cells. With the help of genetic manipulation, this colony can be purposefully transformed into any desired tissue. Human embryonic stem cells were first isolated by American scientist James Thompson from the University of Wisconsin in 1999. In addition to early embryos, there are a number of other sources of stem cells. One of them is tissues of an adult body. Stem cells are found in the bone marrow, brain, skin and blood of adults, and it is possible that they will be found in other tissues in the near future. Another method of obtaining stem cells, called somatic cell nuclear transfer, also has significant prospects. Its essence lies in the fact that the nucleus of the egg is replaced by the nucleus of a somatic (i.e., any non-reproductive) cell extracted from an adult organism. The resulting cell is theoretically capable of developing into a full-fledged animal or human organism. This procedure has another, more common name – cloning. Another source of pluripotent stem cells is aborted fetuses and miscarriages.
Currently, stem cell research is one of the most relevant areas of biomedicine and, according to scientists, can have revolutionary practical significance in medicine.
Firstly, they will improve the efficiency of research into the early stages of embryo development at the molecular biological level. The study of stem cells physically located outside the woman's womb will help to more clearly trace and better understand the anomalies that arise at this stage.
Second, stem cells offer new and safer opportunities for drug testing. It is known that biomedicine uses human material (embryo, fetus, adult tissue, etc.) for research and therapeutic purposes, either as an object or as “raw material” for an experiment or therapy. Animal testing cannot guarantee the safety of certain biomedical technologies for use in humans. It is not surprising that the inevitable “objectification” of a person in the research process, on the one hand, and the presence of risks to the patient’s health, on the other, give rise to a number of problematic ethical issues that are becoming increasingly prominent in society in the context of protecting human rights and dignity. But these problems can be solved by using artificially grown cells from the heart, skin, liver, kidneys, etc. to test medications for toxicity before clinical trials in adults.
However, the main area of application of stem cells is biomedicine. Stem cells, if they can be manipulated, will expand the very definition of medicine, marking the transition from preventing or controlling the symptoms of disease (which is the traditional goal of medical practice) to “regenerative” medicine, i.e. restoration of lost vital functions of organs.
The results of the work of many geneticists have already been introduced into the field of transplantation technology. It has been shown that the use of fetal (embryo) and embryonic cells, which have weakly expressed antigens, reduces the level of post-transplant complications by an order of magnitude. In addition, they are endowed with powerful reproduction potential, as they contain a unique complex of growth factors that stimulate the regeneration of donor tissue.
The use of adult stem cells, as a rule, does not raise any serious ethical objections, but is the least effective. It is believed that the most promising sources of “raw materials” for research are early embryos, which is the most problematic from an ethical point of view.
3.4 Cloning
Cloning from a scientific point of view is the formation of identical descendants (clones) through asexual reproduction. The result of cloning is a population of cells or organisms with the same set of genes (genotype). When we talk about a human clone, it is simply an identical twin of another person, delayed in time. Human clones will be ordinary human beings. They will be carried by an ordinary woman for 9 months, they will be born and raised in a family, like any other child. Just like identical twins, the clone and the DNA donor will have different fingerprints. The clone will not inherit any of the original individual's memories. Because of all these differences, a clone is not a photocopy or double of a person, but simply a younger identical twin.
Issues of artificial reproduction, and primarily of humans, have worried many minds since the time of Aristotle (384 - 322 BC) or the alchemists Paracelsus (1493 - 1541) and Van Helminth (1577 - 1644). True, their experiments from the point of view of modern natural science did not have the beginnings of a scientific basis. For example, Paracelsus proved that it was possible to produce a human being in a flask. He even came up with a name for this creature - “homunculus”, in Latin “homo” is a person. Here is his recipe: “Take human fluid and leave it to rot, first in a pumpkin, then in a horse’s stomach for forty days, until it begins to live, move and swarm, which is easy to notice. What emerges does not at all resemble a person; it is transparent and without a body. But if you then feed it daily, secretly and carefully, with human blood and keep it for forty weeks in the constant and uniform temperature of a horse’s stomach, then a real living child will appear, having all the members, like a child born from a woman, only of very small stature.” . Like other “scientists” of that time, Paracelsus claimed that he reproduced all this in his laboratory, but no one except himself saw this “man”.
The first experiments in this direction, which can be considered as an undoubted achievement of science, lead to the middle of the 20th century. So in 1943, the egg was successfully fertilized, and in 1978 the first test-tube child was born. In 1981, Professor L. Shettles from Columbia University in New York received three cloned human embryos.
The announcement of the birth of a cloned child, a girl, into a family of young Americans on December 26, 2002, became a worldwide sensation. She was named symbolically - Eve. This news gave impetus to endless debates about how to treat this “technology” - as another outstanding victory of science or as an unacceptable human intrusion into a sphere hitherto subject only to the Creator himself?
The ability to clone has the potential to provide incredible benefits to humanity.
Cloning organs and tissues is the number one task in the field of transplantology, traumatology and other areas of medicine and biology. The Eurotransplant organization has its headquarters in Holland and unites doctors from many countries. Its data bank contains information about 12 thousand patients in need of organ transplant operations. Most of them are wealthy people, because... Medical services for organ transplantation are not cheap. A kidney transplant costs a patient 40 thousand dollars, a heart – about 100 thousand dollars, and a liver – almost half a million.
Organ transplantation from donors is a very complex operation, followed by an equally difficult period of graft engraftment. Very often the graft is rejected and the patient dies. Scientists hope that these problems can be solved through cloning. By transplanting a cloned organ, it will be possible to avoid the rejection reaction and possible consequences in the form of cancer that develops against the background of immunodeficiency. People in need of urgent surgery will no longer have to wait for “their” organ. They will have a 100% guarantee that the transplant operation will take place on time. Cloned organs will be a salvation for elderly people who need radical help due to diseases of old age (worn out heart, diseased liver, etc.).
Cloning will help people suffering from severe genetic diseases to have children. For example, if the genes that determine any such disease are contained in the father’s chromosomes, then the nucleus of her own somatic cell is transplanted into the mother’s egg, and then a child will appear, devoid of dangerous genes, an exact copy of the mother. If these genes are contained in the mother’s chromosomes, then the nucleus of the father’s somatic cell will be transferred to her egg, and a healthy child will appear, a copy of the father.
The most obvious effect of cloning is to enable childless people to have their own children. Millions of married couples around the world today suffer, being doomed to remain without descendants.
Cloning can also be used to breed animals to obtain new drugs from their tissues and organs. Such animals that produce human (“therapeutic”) proteins can subsequently be used to treat humans.
Exceptional individuals are valuable in many ways, both cultural and financial. In appearance, the clone almost completely replicates the original individual. For famous supermodels and movie stars, this may be the most important quality. Identical twins have a 70 percent correlation in intelligence and a 50 percent correlation in personality traits. This means that if a brilliant scientist is cloned, his twin clone may actually be even smarter than the original scientist! It would probably be worth cloning great actors, athletes, outstanding intellectuals and scientists, each of the Nobel laureates for the sake of the future contribution that their twins could potentially make to science, culture, and sports. Richard Schickel, in his essay on Clint Eastwood, said: "For actors, more than for anyone else, genetics is destiny." Cloning is reasonable even for mere mortals. The concept of "exceptional people" is not limited to movie stars and Nobel Prize winners. We all know people whom we respect and admire and consider worthy of “living after death.”
Scientists have previously shown that it is not necessary for the DNA donors, whether animal or human, to be alive when cloning is done. If the tissue sample is frozen properly, it could be possible to create a clone even long after its death. In the case of people who have already died and whose tissue has not been frozen, cloning becomes more difficult, and current technology does not allow it.
At the present stage of development of science, the creation of an entire organism by cloning with a predictable development process is very doubtful, and in some cases it is not scientific and requires serious justification. There are fundamental questions, without knowing the answers to which, it is impossible to seriously talk about cloning the human body. The level of modern ideas about the laws of morphogenesis makes this problem unsolvable in the near future.
Today, human cloning experiments are prohibited (or a moratorium has been imposed) in almost all developed and developing countries; in addition, there is a special UN Security Council resolution introducing a moratorium on any experiments on human cloning and embryos older than two weeks of development.
3.4 Eugenics
In the mass consciousness, eugenics is perceived as an attribute of racism, a phenomenon characteristic only of totalitarian states of the 20th century.
It is believed that eugenics as the science of racial hygiene originated in the Third Reich and that eugenic research was carried out only in Hitler's Germany. What is associated with Germany is not the flourishing of these studies, but, on the contrary, their complete discrediting.
However, eugenic practices already existed many centuries earlier. The basics of selection have been known to pastoral peoples since ancient times. In Sparta, frail babies were destroyed by being thrown into the abyss, as a result of which a type of invulnerable Spartan warrior arose. Plato wrote that children with defects or those born from defective parents should not be raised. The disabled, as well as victims of their own vices, should be denied medical care, and “moral degenerates” should be executed. On the other hand, an ideal society, according to Plato, is obliged to encourage temporary unions of selected men and women so that they leave high-quality offspring. In Ancient Greece, any quality that other inhabitants of a given society did not have was considered ugliness, i.e. racial characteristics also became signs of ugliness. Much credit for the study of pathology belongs to Aristotle, who defined ugliness as a manifestation of the variability of living things, thereby refuting the mystical view of pathology. In the Middle Ages, a religious-mystical view of pathology again prevailed, and ugliness began to be considered a punishment for the sinful essence of the human race. In France, the grenadiers of the Napoleonic army were selected for special characteristics, including height. The death of most of this army elite significantly affected the gene pool of the nation. For example, the average height of the French has become shorter.
The history of Russian eugenics began in the era of Peter the Great. According to Peter’s decree “On the testimony of fools in the Senate”, “Fools who are not fit for any science or service” were forbidden to marry, because “a good legacy and state benefit” could not be expected from them. This decree was openly eugenic in nature and indicated that Peter the Great was interested in problems of heredity. Another action of Peter, according to eugenicists, was of the opposite, anti-eugenic nature, but was also associated with Peter’s desire to experiment with the phenomenon of heredity - we are talking about the famous wedding of dwarfs arranged in November 1710.
The term “eugenics” (from the Greek “eugeny” - noble) was first introduced in 1883 in the book “Inquiries into Human Faculty and Its Development”. In 1904, Galton defined eugenics as “the science concerned with all factors that improve the innate qualities of the race.” According to Galton, eugenics is designed to develop and theoretically justify methods of social control that “may correct or improve the racial qualities of future generations, both physical and intellectual.” He came to the conclusion that it was necessary to protect the gene pool of the chosen human race, selecting its best representatives endowed with outstanding abilities. Galton believed that abilities are inherited, and living conditions only contribute to the development of what is inherited from ancestors. Consequently, eugenics had to solve such universal problems as the fight against hereditary diseases, the general increase in the intellectual potential of mankind, etc. The eugenic direction of research was willingly supported by a number of scientific circles, and then became an academic discipline taught in many colleges and universities.
Over time, eugenic theories found wide application. The governments of some countries have taken certain practical steps to improve human qualities.
In the USA, Germany and other Western European countries, during the first half of the 20th century, many programs for scientifically based selection of married couples were created to produce offspring with high genetic qualities. It is important to note that many of these types of programs had legislative registration (although there were also secret actions).
In 1920, the Russian Eugenics Society was created. The periodical “Russian Eugenics Journal” begins to appear. Eugenics acquired a special status in Soviet Russia - the emphasis was placed on the formation of a new human generation, “homo sovieticus”. All this gave the research of eugenicists a special political meaning. Professor V. Gorinevsky sounded the alarm: eugenics must immediately come to the aid of Soviet society, in which signs of degeneration were clearly visible. It turned out that degeneration can affect not only the bourgeois exploiting classes, but also the proletariat. As a result of two wars, imperialist and civil, “the population of Russia not only thinned out,” wrote Gorinevsky, “it immediately became qualitatively worse, since the best elements of the entire people went to war - the stronger, the healthiest, the best workers...” . Over the five years of civil unrest, the country's population decreased by almost 13 million people - these were mainly victims of famine, various epidemics, as well as those who died in battles, from the Red and White Terror. The potential of the people was seriously undermined. Geneticist A.S. Serebrovsky in 1929 made a proposal to introduce “socialist eugenics” or anthropotechnics, the essence of which was to artificially inseminate women with the sperm of talented men. By inseminating women with the sperm of the leaders of the revolution, one could count on the emergence of a new generation of fighters for a brighter future.
In the USA, eugenics was supposed to serve social goals, eradicate alcoholism, prostitution, crime, and hereditary mental illnesses. The beginning of the practice of legislative implementation of eugenic policy in the United States can be dated back to 1907, when the first law on forced sterilization of inferior citizens on eugenic grounds was passed in the US state of Indiana. Similar laws were later adopted in almost thirty more states. They simultaneously prohibited interracial marriages, which “contaminated” the nation’s gene pool with substandard genes. As a result, there were approximately 50,000 cases of forced sterilization in the United States before World War II. There was also the practice of a judicial bargain - the expression by a repeat offender (in a significant number of cases these were poor emigrants caught in repeated petty theft) of “voluntary” consent to sterilization in exchange for a reduced sentence for a criminal offense. Even now, some US states provide for the possibility of replacing the life imprisonment of persons who have committed sex crimes with voluntary castration. In this case, castration simultaneously plays a preventive and punitive role.
At the International Eugenics Congress, held in New York in 1932, one of the learned eugenicists said: “There is no doubt that if the sterilization law were enforced in the United States to a greater extent, the result would be less than in a hundred years we would have eliminated at least 90% of crime, insanity, imbecility, idiocy and sexual perversion, not to mention many other forms of defectiveness and degeneration. Thus, within a century, our madhouses, prisons and mental hospitals would be almost cleared of their victims of human grief and suffering."
Modern geneticist professor A.P. Akifyev writes in the book “Genetics and Fates”: “... there is information that in the USA there is even a secret sperm bank of Nobel laureates. It is well known that many Nobel laureates were ardent supporters of eugenics.”
Nazi Germany revealed genetics that had a religious overtones and was aimed at the destruction of the “children of darkness” represented by representatives of lower, non-Aryan races. On July 14, 1934, the law “On preventing the birth of hereditarily ill offspring” was passed, according to which persons suffering from congenital dementia, schizophrenia, epilepsy, blindness, and muteness were subject to mandatory sterilization. To implement this law, special “hereditary health courts” were created, which consisted of two doctors, a judge and a chairman. By court verdict, men and women whose bad heredity was considered established were subjected to a violent operation that prevented the possibility of childbearing. Total from 1934 to 1937 197,419 people were sterilized. Carrying out a strict eugenic policy, the National Socialists were faced with a difficult situation for them when it turned out that carriers of hereditary diseases were not only representatives of the “lower races” (Jews, gypsies), but also purebred Aryans. Facing this fact, racist eugenics was helpless. Children of Aryan origin who inherited schizophrenia, dementia or other ailments from their parents had to study in special schools of correctional pedagogy. If it turned out that correction attempts did not lead to success, the child could end up in so-called “shelters”, where the disabled child was physically destroyed. Since 1939, all doctors and obstetricians have been required to report the birth of every handicapped child. The fate of such a child was determined by a special commission, but most likely he would face physical destruction. The most humane way was to deprive a child of food. Thus, the ideology of racial intolerance came into conflict with eugenic practice - a purebred Aryan child could be born with the same disease as a child in a Jewish family.
At the Nuremberg trials, cases of using experiments on radiation sterilization of prisoners were considered. After radiation castration, they were sent to “general work”, then killed and changes in the tissues of the gonads were examined. Konrad Lorenz, as a proponent of “practical” eugenics in Nazi Germany, became “persona non grata” in many countries after World War II. However, a number of regional and national governments supported eugenics programs until the 1970s.
Despite the fact that eugenics is a purely scientific discipline, the eugenicists of the Third Reich took the unscientific, racist part of the theory and used it as a justification for the “perfection” of any race. This alienated many scientists from eugenic ideas, making the term itself unpopular. Afterwards, eugenic research was banned in many countries.
Since the late 80s, eugenic issues have again become the subject of academic and political discussions as a topic of “the danger of a revival of eugenics” in connection with the launch of the international research project “Human Genome”, which will give biomedicine unprecedented opportunities for diagnosing and treating genetic pathology. Articles prohibiting eugenic programs in one way or another have been included in the legislation of most industrialized countries. In 1997, the UNESCO Universal Declaration on the Human Genome and Human Rights was adopted (signed by all UN members except Singapore), prohibiting eugenic activities. A similar prohibition is contained in a special annex to the Council of Europe Convention “On the protection of human rights and dignity in connection with the use of advances in biology and medicine: Convention on Human Rights and Biomedicine,” adopted in the same year.
There are positive and negative eugenics. Positive include the actions of scientists aimed at promoting the reproduction of people who have characteristics valuable to society (the absence of hereditary diseases, good physical development, high intelligence, etc.). The goal of negative eugenics is to stop the reproduction of persons with hereditary defects, or those who are considered physically or mentally defective in a given society. The line between these types of eugenics is quite arbitrary. The feasibility of both directions raises a number of questions.
Eugenics research has found itself at the intersection of many social, ethnic and political issues, making it more relevant than it was 100 years ago.
3.5 Genetics in forensics
In judicial practice, there are cases of establishing kinship when children were confused in the maternity hospital. Sometimes this concerned children who grew up in other people's families for more than one year.
To establish kinship, biological examination methods are used, which is carried out when the child turns 1 year old and the blood system has stabilized.
A new method has been developed - gene fingerprinting, which allows analysis at the chromosomal level. In this case, the age of the child does not matter, and the relationship is established with a 100% guarantee.
4 SOCIAL AND ETHICAL ISSUES OF GENETICS
In recent decades, as is known, there have been widespread discussions related to the prospects for applying genetic methods to humans. This seemingly purely scientific interest unexpectedly highlighted the broad ideological, social and ethical issues associated with it. The specificity of the ethical problems of medical genetics also lies in the fact that the subject of genetic practice is the care of an unborn child.
When it comes to the dangers or safety of a genetically modified world, the most common points of view are based primarily on “general considerations and common sense.” For example:
· in nature, everything is arranged intelligently, any intervention in it will only worsen everything;
· since scientists themselves cannot predict with a 100% guarantee all, especially long-term, consequences of releasing transgenic organisms into nature, there is no need to do this at all;
· over billions of years of evolution, Nature has tried all possible options for creating living organisms, and nothing bad happened, why should this happen to humans?
· in Nature, gene transfer is already constantly happening between different organisms (especially between microbes and viruses), so transgenic organisms will not add anything fundamentally new to Nature.
Genetic engineering can, on the one hand, lead to the deliverance of humanity from many ills, in particular from hereditary diseases, and on the other hand, as a result of experiments and manipulations with genes, lead to results that pose a threat to humans and humanity. The ethical assessment of what has already been achieved is distinguished by a variety of points of view. Optimists see great promise in the fields of genetic therapy and biotechnology. An optimistic attitude is more typical of scientists - direct participants in the work, molecular biologists, and geneticists. Another point of view is more common among lawyers and philosophers. Those who adhere to it are very concerned about the possibility of genetic changes, which, once begun, could “change the genetic profile of humanity so much that, in relation to the consequences of this “revolution,” the consequences of existing wars and disasters may seem insignificant.” It is clear that representatives of both the first and second points of view are interested in the formation of a legislative framework that favors their interests. These positions are extremely difficult to compare, since the former is based on a pragmatic argument and a factual basis. However, the very presence of the principle of pragmatism as a philosophical basis does not make this point of view preferable a priori. The arguments of the second group are more related to probability than to a specific fact, but it is precisely the absence of utilitarian ethics when it comes to a person (according to Kant, a person cannot be considered as a means to achieve any, even the most good goal) that allows one to listen to it. Discussions around genetic engineering indicate that ethical values can and should determine the direction of research in this and other areas of knowledge.
The main ethical problem of modern medical genetics is considered to be the issue of confidentiality of genetic information, the arbitrariness of genetic testing, the availability of medical genetic assistance, etc. Manipulation of human genetic material and cells involves taking samples of biomaterial from individuals for diagnostics or extracorporeal changes in the interests of that person or his relatives. In this case, the greatest danger may be discrimination against individuals or groups on the basis of genetic information obtained about them, which can harm not only the patient, but also relatives. This may lead to job loss, violation of the marriage contract, etc.
It is known that only a very small percentage of hereditary diseases are successfully cured. Medicine is mainly limited to prevention and diagnostic methods. Then another question arises. If the information concerns the likelihood of a serious mental or physical illness, is the geneticist obliged to provide complete information to relatives in order to avoid possible misfortune? And will a person want to know his own fate if he cannot avoid it? In this case, the genetic diagnosis can be a heavy burden for the patient and his family and become the basis for social discrimination against them.
In addition, the introduction of genetic material of autologous or foreign origin into the human body to correct the functioning of its genome or other methods of gene therapy affect the interests of both those directly examined or undergoing treatment, as well as their relatives and descendants: their health, marital status, insurance, employment, property and etc.
It is known that The greatest dangers of gene therapy associated with the viral nature of the transgene carrier. Such a virus should not infect other people and should not infect the patient’s germ cells, so as not to transmit the transgene to the offspring and make it transgenic. However, it is currently believed that gene therapy technologies, when chosen wisely, do not pose risks to patients beyond the scope of routine medical procedures.
Currently, genetic engineering is technically imperfect, since it is not able to control the process of inserting a new gene. Therefore, it is impossible to predict the insertion site and the effects of the added gene. Even if the location of a gene can be determined once it has been inserted into the genome, the available DNA information is very incomplete to predict the results.
The possibility of cloning has caused great excitement in the field of religion, ethics, and human rights.
Almost all religious teachings insist that the birth of a person is in the “hands” of higher powers, that conception and birth should occur naturally. Cloning infringes on the divine essence of human origin, which is a sin. Cloning can not only lead to the destruction of marriage bonds, but also lead to the spread of unknown diseases. Scientists are talking about “correcting” those genetic defects that arose thanks to God’s providence.
On the ethical side, human cloning also raises great concerns. Firstly, the formation of a person as an individual is based not only on biological heredity, it is also determined by the family, social and cultural environment. And, therefore, there is no way to achieve a complete match between the copy and the prototype (donor).
A clone grows from an adult cell, in the genetic structure of which so-called somatic mutations have occurred over many years. During natural fertilization, the mutated genes of one parent are compensated by the normal counterparts of the other parent. When cloning, such compensation does not occur, which puts the clone at risk of diseases caused by somatic mutations: cancer, arthritis, immunodeficiencies.
The cloned organism will carry the burden of genetic mutations of the donor cell, which means its diseases, signs of aging, etc. Consequently, the ontogeny of clones is not identical to the ontogenesis of their parents: clones go through a different life path, shortened and saturated with diseases. The famous sheep Dolly, born as a result of cloning in 1997, began to age at an incredible rate. Two calendar years later, in 1999, it turned out that her biological age was as much as six years! The donor of the cell from which Dolly was copied was at one time just a six-year-old sheep - it turns out that the newborn quickly caught up with the age data embedded in its genome. It can be argued that cloning does not bring rejuvenation, return of youth, or immortality. Thus, the cloning method cannot be considered absolutely safe for humans.
The result of cloning can be a depletion of the gene pool. With asexual reproduction, the programming of the genotype determines a smaller variety of interactions of the developing organism with changing environmental conditions.
As for the methodological aspect of the problem, it is not difficult to imagine that due to the insufficient perfection of the cloning technology itself, in the course of, alas, inevitable failures, hundreds of innocent children will suffer, doomed to terrible pathologies. Inexorable statistics show that if someone now decides to try to reproduce an exact copy of a person, he has only one chance out of three hundred possible (the rate of survival of living individuals is 0.36%, the percentage of death of developing reconstructed eggs during the fetal period of development is 62%). Consequently, when cloning a person, each “unsuccessful copy” will turn out to be physically or mentally disabled, but at the same time a full-fledged person and virtually all of humanity will be responsible for it.
Therefore, for human cloning it is very important to minimize the risk, which, however, to a certain extent will still remain, the risk of defective development of the reconstructed egg, the main reason for which may be incomplete reprogramming of the genome of the donor nucleus.
The question also arises: can a woman, an egg donor, put forward her rights to the resulting child, whose cells do not contain any of her chromosomes, but her personal mitochondrial DNA is present? DNA molecules, hereditary material, are contained not only in the cell nucleus, but also in the cytoplasm, in mitochondria - the organelles responsible for the energy of the cell. Unlike nuclear DNA, mitochondrial DNA passes into the next generation only through the mother's egg. Fathers never pass on their mitochondria to their children. So far, no one can say for sure how this mitochondrial DNA participates in heredity. But it is certainly involved in some way if it is transmitted from a mother to all her children, and then from daughters to their children, etc. In other words, we all contain in our cells the mitochondrial DNA of the foremother Eve, common to all of us. If so, then all the talk about cloning organisms is still just an empty dream. Only nuclear genes are transplanted, and the mitochondrial genes in the cloned organism will be from the cell where the nuclear genes were transplanted, i.e. strangers. The child, in turn, can say that he has two genetic mothers - according to chromosomal and mitochondrial DNA. This means it is quite possible that lawyers will eventually have to consider the issue of ownership of their DNA - after all, cells can be taken without a person’s consent. The legal side of the problem should also touch upon the issue of the cells of a deceased person. The question arises: who has the right to dispose of the genetic material of the deceased for subsequent cloning? Can an individual whose cells were cloned after death be considered the father (mother)? In addition, there is a need to create a right basis on which the abuse of cloning can be avoided. For example, there is reason to believe that predispositions to violence and murder are genetically determined. Therefore, the cloning of convicted murderers and other violent criminals must be prohibited.
It should be recognized that talking about human cloning can only be purely theoretical. It is obvious that today the likelihood of negative consequences of this procedure significantly outweighs its benefits, therefore, according to many scientists and philosophers, work on human cloning, both at the present time and in the near future, is inappropriate.
The ethical issues surrounding stem cells differ in a number of ways. In ordinary clinical practice, ethical conflicts arise and are resolved, as a rule, between two participants - the patient and the doctor. In the case of using stem cells, a third party is added to this - the stem cell donor. The problem of obtaining stem cells, their cultivation and transplantation constitute an independent stream of complex ethical problems.
The central issue surrounding the embryonic stem cell debate is the moral and legal status of the embryo. Obtaining a colony of stem cells from an early embryo means the death of this embryo, denying it the opportunity to develop into a full-fledged organism. If the embryo is a human being, a person, then it is impermissible to do anything with it that is unacceptable to do with a person (deliberately kill, mutilate, cause pain, etc.). If an embryo at an early stage of development is only a handful of cells, then neither ethical standards nor law can prohibit its use for a variety of socially useful purposes. If this is an intermediate form of life, then its use is in principle possible, but with certain reservations.
The topic of the status of the embryo is intertwined with the question of the legality of arbitrary abortion. But in the case of stem cells, the problem of the status of the embryo takes on a new dimension. This is due to the motivation of this type of scientific research, namely the search for new, more effective ways to treat serious diseases, for which there is objectively no antidote in modern medicine. Therefore, according to many, traditional arguments against abortion or reproductive cloning may not fully apply to stem cell research.
The issue of the legal and moral status of the embryo is not so much a natural science issue as a bioethical and religious one. Here two ideological attitudes collide, each of which has a deeply felt moral rationale. On the one hand, this is an attitude of reverence for human life, the starting point of which, no matter how disputed, is still fertilization. On the other hand, it is the desire to save sick people from suffering.
Although for most people the issue of using embryonic stem cells is very complex and the choice of one solution or another is not clear-cut, various religious movements have already formed a very definite opinion on this issue.
The Roman Catholic and Orthodox churches, as well as many Protestants, say that the life of the human person begins at the moment of fertilization of the egg. An embryo is already an individual, only at an early stage of development. In this case, destroying the embryo is equivalent to killing a person. With this vision, the use of a human embryo, regardless of purpose, appears immoral.
The opposite position belongs to a wide range of liberal Protestant traditions and consists in the fact that the formation of a person is not tied to a specific moment in time, but depends on the experience of communication with the outside world, on the ability to perceive what gives meaning and value to life. The emergence of personality here is considered precisely as formation, as a gradual process, extended over time, occurring after the birth of a person. In this understanding, the early embryo is not human, and there is nothing wrong with using it for noble medical purposes.
Modern Judaism is even more liberal regarding this problem. In the Talmudic tradition, the fertilization of an egg is not considered at all as the beginning of the life of a human person. Human status is acquired at a later stage of embryonic development. In addition, outside the female womb, the embryo has no legal status at all, which means that an embryo obtained in vitro and not intended for implantation can be used in medical research without any reservations, which corresponds to another concept that is most important for Judaism - the preservation of life and human health as a primary moral task.
According to Muslims, the embryo is endowed with a soul only on the 40th or 120th day after fertilization (depending on the specific interpretation of the Koran), which removes any restrictions and reservations, since stem cells are cultured from 5-6 days embryo.
The presence of colossal ideological differences on the bioethics of stem cells raises the perceived need for serious government regulation. The issue of the status of the embryo and, in particular, stem cells is a universal dilemma that receives one voice or another in any society. All over the world, at the national, regional and international levels, there are attempts, on the one hand, to bring the issue of stem cells under the existing regulatory framework, and on the other hand, to develop a new layer of legislation and institutional framework specifically for regulating research with stem cells.
Eugenics is the most prominent use of genetics and raises the most questions. One of the most difficult issues is determining how to identify an elite whose gene pool is valuable and must be preserved and reproduced in subsequent generations. It is known that the Spartans formed the type of invincible warrior, won the Peloponnesian War from Athens, but Sparta did not know great commanders. The futility of rejecting “harmful” genes was also shown by Nazi experiments: at one time in Nazi Germany, mentally ill people were practically destroyed, and at first fewer children with disabilities were actually born. But 40-50 years have passed, and now the percentage of mental patients in Germany is the same as it was before.
Another stumbling block is that eugenics attempts to control complex human behavioral traits, intelligence and talent, which are determined by a large number of genes. The nature of their inheritance is very complex. In addition, culture, language, upbringing conditions, education and, of course, a moment of luck play a big role in the development of talent and intelligence, although one may not agree with this. All this is transmitted to the child not through genes, but through communication with loved ones and teachers. We should not forget that talent is not the presence of some special genes, but, as a rule, their unique, amazing combination, which is not repeated in generations. In addition, it is known that many geniuses suffered from one disease or another, which made them “harmful material” from a eugenic point of view. N.K. Koltsov in the article “Improving the Human Breed” noted that “epilepsy or insanity (is combined) with high talent and even genius.” Here we are approaching the long-standing and insoluble question of the relationship between the norm and the anomaly. Pathology and the norm are in a dialectical relationship; each pathology gives a clearer idea of the norm.
At one time, scientists (mainly geneticists, anthropologists and psychiatrists) took an active part in scientifically justifying the need for a politically oriented program to save the genetic health of the nation. The exact number of victims of this eugenics program is difficult to determine. So in January 1940, the poisonous gas carbon dioxide was used for the first time in psychiatric clinics to euthanize patients. Many psychiatric patients were included in the statistics of natural death, because they were simply starved to death or died after deliberately contracting a serious infectious disease.
Another problem is the change in the gender structure of society, for example, in Southeast Asia, diagnosing the sex of the fetus is widely practiced and girls are often aborted. This disrupts the natural ratio of boys and girls.
From the point of view of eugenics, the danger of “degeneration” is especially relevant for industrialized countries. The deterioration of the environmental situation on the planet (ozone holes, increased radiation levels, environmental poisons, mutagens and carcinogens in the environment) leads to the accumulation of harmful and unnecessary changes in people's genes - mutations. This accumulation of mutations is called genetic load. Mutations lead to poor health, various mental disorders, and pathologies. One of the reasons for the increase in genetic load is the development of medicine, which allows individuals with significant congenital genetic anomalies or diseases to reach reproductive age. These diseases previously acted as an obstacle to the transmission of defective genetic material to subsequent generations. Eugenic methods are aimed at stopping the genetic degeneration of the population.
Currently, eugenic principles are partially implemented in recommendations for desirable/unwanted pregnancy - so far such assessments are carried out on the basis of a survey and/or biotesting of only a small category of people included in the so-called “risk group”.
Social compensation for persons who do not have a chance of having their own healthy offspring are methods of artificial insemination, as well as the institution of adoption. In a number of countries, prenatal diagnostics of an embryo developed as a result of artificial insemination (with a cell number of about 10) is already available. The presence of markers for about 6,000 hereditary diseases is determined, after which the question of the advisability of implanting the embryo into the uterus is decided. This allows couples who previously did not take risks due to the high risk of hereditary diseases to have their own child. On the other hand, some experts believe that the practice of interfering with natural gene diversity carries certain hidden risks. However, these methods are not designed to improve a person's gene pool, but to help individual couples achieve their desire to have a child.
The first legal documents concerning issues of human genetics were formed on the basis of the conclusions of a 1975 conference held in Azilomar, the participants of which were leading experts in the field of molecular genetics. For the first time at this conference, a principle was developed for classifying degrees of danger, a list of prohibited experiments was compiled, and the need for legislative regulation and monitoring in relation to genetic engineering activities was indicated. The most important legal documents currently are:
“Universal Declaration on the Human Genome and Human Rights”, adopted by the UNESCO General Assembly in 1997;
“Council of Europe Convention for the Protection of Human Rights and Dignity with regard to Applications of Biology and Medicine: Convention on Human Rights and Biomedicine”, adopted in 1996 by member states of the European Council and subsequently supplemented by a protocol prohibiting human cloning;
WHO guide “Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services”, dedicated to ethical issues in medical genetics. (1997).
WHO Statement on Human Cloning (“Declaration sur le clonage”, Rapp. No. 756-CR/97) (1997).
The value orientation of the subject, accompanying the process of cognition, permeating it, determines the importance of a particular idea for science, and is capable of determining the strategy of research in science. At the same time, incorrect estimates are fraught with serious consequences for science. Qualifying an idea as insignificant, especially before determining whether it is true or false, can misrepresent it as false and thereby cause great harm to the knowledge of nature. New knowledge acquired by a person is a natural factor in his own evolution. Knowledge itself, scientific research carries neither good nor evil. The main thing is in whose hands they are.
CONCLUSION
Among the biological sciences, genetics is perhaps the most relevant to humanities. Its significance, first of all, lies in philosophical and historical applications: where did humanity come from, what could happen to it next, what is its place in the system of nature. Its significance lies in directly practical problems: physical and mental health, receptivity to training and education, pliability to the pressures of the material and socio-economic environment that shape personality. Moreover, theoretical and practical applications do not belong to non-overlapping areas; they are interdependent.
Genetics faces very serious problems for humans. Research in this area is very important for solving many medical issues related primarily to various hereditary diseases. Nowadays, biomedical sciences and technologies have reached such a level that on their basis it is possible not only to describe in terms of molecular structures and processes the fine structure of individual parts of the body and their coordinated work, but also to create fundamentally new methods for diagnosing, treating and preventing many diseases . Advances in the field of genetics make it possible to assess the abilities and capabilities of each person, identify differences between populations, and assess the degree of adaptability of a particular person to a particular environmental situation. DNA sequences can be used to determine the degree of relationship between people. The method of “genetic fingerprinting” is successfully used in forensic science. Similar approaches can be used in anthropology, paleontology, ethnography, and archeology.
A feature of any developing science is that each new step brings with it both new, previously unknown opportunities and formidable dangers. Mastery of atomic energy brought not only cheap electricity, but also weapons capable of destroying all of humanity. In this regard, the achievements of genetics pose serious social and ethical problems, the main of which is the question of the advisability of interfering with the “sacred” human nature.
Over time, science and society come to the socio-ethical and humanistic regulation of science as a vital necessity. In this regard, freedom of scientific research and the social responsibility of a scientist should not be mutually exclusive. The fate of all humanity will depend on the development of the correct ideological and social-humanistic positions of scientists.
The progress of science and technology is inevitable, and anyone who has embarked on the path of scientific research must do everything possible and impossible so that his discoveries are not used to the detriment of humanity, so that on our planet intelligence does not destroy life, life, the infinity of which is studied by genetics, alone from the great sciences of the future!
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Introduction
Chapter I. Dialectical-materialistic aspect of the study of social problems of human genetics 22-68
I. Dialectical-materialistic principles of studying man and his heredity 22-38
2. Marxist-Leninist understanding of the relationship between social nature and the biological basis of man 39-68
Chapter II. Specificity of the socio-biological problem in anthropogenics 69 - 140
I. The relationship between the social and the biological in the study of human heredity 69 - 103
2. Qualitative specificity of human heredity as a social being 104 - 128
3. The place of genetics in the system of human sciences 129-153
Conclusion 154 - 159
Bibliography
Introduction to the work
The relevance of research. The dissertation is devoted to the philosophical development of social problems of human genetics. The relevance of this topic is determined primarily by the fact that the 21st Congress of the CPSU, as one of the most important problems of social policy, proclaimed the task of further development of the material and spiritual foundations of the socialist way of life, the formation of a new comprehensively developed person. The solution to this issue involves a deep scientific and theoretical study of the problem of man, taking into account natural scientific and philosophical ideas about his nature.
Social problems of human genetics arose as a natural consequence of scientific, technological and social progress. The relevance of research on this topic is due to a number of factors. Firstly, the rapid development of genetics, its inclusion in the process of the scientific and technological revolution and the promotion of biology to the leaders of natural science introduces into human life, into his dominance over nature, society and himself, a new set of problems that require socio-philosophical analysis. Biology poses a "challenge" to philosophy. The problem of the “challenge” was widely discussed at the XII World Philosophical Congress, held in 1978. One of the most important issues that arose for philosophy in connection with the growing importance of biology in the life of society and the individual is the study of social problems of bio-
I. See Materials of the XXII Congress of the ShSS.-M.: Politizdat, 1981, p.63. _ 4 -logical cognition.
Secondly, modern biology is not limited to cognitive tasks, but is becoming one of the means of changing the living world, managing human life processes and meeting his needs. Genetics forms the theoretical foundation of biology. Therefore, the progress of genetics is of particular interest, as it makes it possible to find effective ways to help people with hereditary diseases and to implement a number of medical and biological measures aimed at improving a person’s adaptive capabilities. The development of these studies and practical recommendations give rise to “not only biological problems, but also a whole complex of ethical, legal, ideological problems. All this requires today to strengthen the connection between different sciences that study man in one way or another”^; ;
Thirdly, the special importance of studying this topic is determined by the tasks of the ideological struggle at the present stage; bourgeois ideologists are trying to present capitalism as an eternal and enduring social system that most fully corresponds to the “innate” nature of man and therefore, supposedly, cannot be eliminated by any social revolutions. So they try to explain class struggle, wars, exploitation, antisocial behavior and individualism with “innate” aggressiveness. Replacing social problems with biological ones and trying to
I. Pastushny S.A. Philosophical and methodological problems of genetics. - In the book: Philosophy and modern biology. - M.: Politizdat, 1973, p. 197. - 5 - solving these problems with the help of genetics ultimately leads to the construction of social utopias, which are reactionary in nature and inherently disorient human social activity. Therefore, the Marxist-Leninist solution to the social problems of human genetics is a powerful weapon in the fight against any ideological and class enemy."
Fourthly, the further development of society requires taking into account the natural, biological and genetic characteristics of the human population and each individual; 1 Without knowledge of human heredity, the mechanisms of its implementation in the natural and social environment, it becomes impossible to comprehensively solve the problem of the purposeful formation of a person; “With the emergence and development of genetic engineering, the social problems of human genetics are sharply aggravated. The possibility of intervention in the structure of the human hereditary apparatus, which opens up with the development of technology molecular operations, will require a deep analysis of the social meaning and social consequences of this activity, since the results of genetic engineering work for the person himself may turn out to be unpredictable.All this makes the task of further development of social problems of human genetics, in particular, problems of the qualitative specificity of human heredity, the relationship social and genetic in man, the integration of social and biological knowledge in human genetics is not only theoretically relevant, but also practically significant.
The relationship between the social and the genetic in a person is dialectical in nature. Absolutization of one of these aspects leads to erroneous concepts. The exaggeration of the role of genetic factors in the formation of a person was noted in the report of K.U. Chernenko at the June /1983/ Plenum of the CPSU Central Committee: “It is hardly possible to recognize as scientific concepts that explain such, for example, human qualities as honesty, courage, decency the presence of “positive” genes and actually deny that these qualities are formed by the social environment.” In a report devoted specifically to current issues of ideological, mass-political work of the party, this important remark draws attention to the improvement of our entire ideological and theoretical arsenal, concerning in this case the study of the problem of human formation. Exaggeration of the role of the genetic, gene fetishism in the study of man lies in the fact that his heredity is attributed with properties that it cannot possess by nature. Although human heredity is socialized in nature and in this way fundamentally differs from the organization of animal heredity, it nevertheless cannot transmit the more complex social qualities of a person, which are formed only in the social environment. To overcome erroneous views and a kind of gene fetishism, a deep development of social problems of human genetics is necessary from the standpoint of dialectical and historical materialism with the involvement of natural science material.
I. Materials of the Plenum of the Central Committee of the CPSU, June 14-15, 1983 - M.: Politizdat, 1983, p. 34.
Human genetics occupies a special place in the complex of human sciences. This is due to the awareness of the important role of not only social, but also genetic factors in the existence and development of man as a social being. With the advent of genetics, the question arose about the significance of heredity in the formation of certain properties inherent only to humans. Therefore, in science there is an intensification of those studies that lie at the intersection of social and biological disciplines; As noted by I.T. Shrolov, in order to achieve this fully it is necessary to pay more attention to the analysis of the socio-philosophical foundations of human biological cognition;
Frolov I.T. The problem of man in the "age of biology". - In the book: - Biological and social in human development. - M.: Pauka, 1977, p. 95.
Marx K., Engels $. Soch., vol. 23, p. 383 /note/. when studying man as a social being and interpreting social phenomena, he speaks of the need for scientists to transition to the ideological and methodological positions of historical and dialectical materialism. The study of social problems of human genetics leads to clarification of the status of this science as a branch of socio-biological knowledge of man; In this regard, human genetics, having a specific apparatus for complex research, begins to act as one of the forms of synthesis of natural science and humanities knowledge about man.
The degree of development of the problem. Currently, two main directions of philosophical research related to the analysis of social problems of human genetics can be distinguished: intrascientific and sociocultural directions. This division is based on the distinction between the broad and narrow meaning of the concept of social, as well as internal and external factors of scientific knowledge.
In a broad sense, the social characterizes the internal integral nature of man as a social being located in social relations. Showing that geneticists must inevitably go beyond the boundaries of their specialty when they solve theoretical issues of genetic engineering, protection and improvement of human heredity, S.A. Pastushny emphasizes that “the fundamental problems of human genetics force modern scientists to reckon with the social characteristics of man.”
I. Pastushny S.A., Genetics as an object of philosophical analysis. -M.: Mysl, 1981, p. 245. - 9 -In a narrow sense, the social characterizes only the social relations into which a person enters. Therefore, the concept of social is broader than the concept of public and cannot be reduced to it. The social conditions of human cognition and practical activity, due to their complexity and mediation by various factors, require a comprehensive analysis. This is why “prospects for the development of human genetics and the practical implementation of their results cannot be successfully implemented without taking into account the social context” 1. Moreover, in an antagonistic society, representatives of natural-historical materialism are not able to “... cope with social issues.” The need to take into account the laws of social development when scientists solve social problems of human genetics without knowledge of historical materialism leads to the fact that they agree, in the words of V.I. Lenin, “to a whole series of blatant absurdities both about politics and about “monistic religion”, etc. .etc. etc." . Suffice it to recall the fact that F. Galton and his followers considered eugenics as the religion of the future. And today attempts continue to use the achievements of genetics as a panacea for all social ills.
The broad and narrow meaning of the concept of social is analyzed by N.B. Okonskaya, used by V.G. Afanasyev, and internal and external factors of scientific knowledge are increasingly being studied in the literature. This division of the concept can be used to analyze
Pastushny S.A. Genetics as an object of philosophical analysis. -M.: Mysl, 1981, p. 244.
Lenin V.I. Full collection cit., vol. 18, p. 377.
There, p. 377. - 10 social problems under consideration.
In the narrow sense of the word, social problems of human genetics are associated with sociocultural, social problems and functions of this science, with the social interpretation of discovered patterns and practical recommendations. With the emergence of Marxism, the problem of the social conditionality of science, the objectivity of social problems of natural science and the regulatory role of humanistic principles, inextricably linked with the objective goals of advanced social classes, parties, and the communist future of humanity, was solved.
Human genetics has common and gives rise to specific social problems. Social problems reflect the influence of biological science and, in particular, genetics on the development of medicine and healthcare and, ultimately, on the development of productive forces in the conditions of scientific and technological progress. Medical genetics opens up new opportunities for preserving and strengthening the genetic foundations of human health, ability to work and cheerfulness. I reflect social problems! that new thing that human genetics as a science introduces into a person’s relationship to nature, to society, to himself, to his future in this world. This process is comprehended by philosophers, sociologists, historians, scientists, theologians, writers, public figures, broad-minded geneticists, biologists, anthropologists, lawyers, and doctors. “Reflection of the social conditions of activity is a characteristic feature of the subject of knowledge at the present stage.” The study of a complex of new problems generated by human genetics is today turning from a subject of special sciences into a subject of general scientific and public interest. In order to fully answer questions that include social aspects of consideration, it is necessary to take into account the underlying social conditions and the possibilities for solving them. However, this is not enough, since it is also necessary to know what the essence of a person is, whether it is inherited, and this raises questions about what constitutes a person’s heredity, what are its distinctive features that provide him with the opportunity to assimilate a social program in ontogenesis. Thus, in human genetics, like in no other science, the dependence of sociocultural problems, external factors of scientific knowledge on intrascientific problems that take into account the social characteristics of man as an object of research is revealed.
In the broad sense of the word, social problems of human genetics are associated with the study of the heredity of man as a social being and are intertwined with the internal scientific problems of this science. In general terms, these are problems of the relationship between the social and the biological in man. There are biological problems of human genetics that are solved by biological methods, but there are also social problems of human genetics that are solved by social methods and require turning to philosophy. So the relationship between the social and the biological in I. Zinevich Yu.A., Fedotova V.G. The role of socio-cultural facts in the study of science. - Questions of Philosophy, 1982, No. 9, p. 77. - 12 - the study of human heredity cannot be solved at the level of biological methodology, since this is an area of social and philosophical problems.
Social problems: arising in human genetics contribute to the correlation of particular scientific ideas about a person with a general philosophical understanding of his social essence and existence. In the history of science there have been many points of view on human nature and the process of its development. However, a truly deep and successful development of the problem of man began with the emergence of Marxist-Leninist philosophy. A large place in philosophical ideas about human nature in Soviet literature is given to a dialectical consideration of biological and social factors in its formation.
Social problems of human genetics are essentially one of the aspects of this socio-biological problem. The need for philosophical development of the socio-genetic aspect of this issue is noted by many authors / As-taurov B.L., Badalyan L.O., Baev A.A., Batenin S.S., Belyaev D.K., Berg R.L., Berdyshev G.D., Bochkov N.P., Brushlinskiy A.V., Girusov Z.V., Davidenkov S.N., Dubinin N.P., Dubrovsky D.I., Karpinskaya R.S., Kremyansky V.I., Lysechko V.P., Merlin B.C., Eikityuk B.A., Okonskaya N.B., Pastushny S.A., Pe-khov A.P., Rokitsky P.F., Rychkov Yu.G. ., Busalov V.M., Tarasov K.E., Tishchenko V.I., Fedorov V.M., Frolov I.T., Tsaregorodtsev G.I., Chernenko E.K., Efroimson V.P. . and etc./. This includes a number of fundamental questions about how social progress influences human heredity, what are the prospects for the development of the genetic foundations of humanity, whether genetic degeneration threatens it, whether there are genetic barriers to human improvement, what are the specifics of human heredity as a subject of social activities. Social problems of human genetics include problems that fix the interaction between the social and the genetic during anthroposociogenesis, as well as issues relating to the interaction of the social nature of man and his biological basis.
Thus, highlighting the broad and narrow meaning of the concept of social, taking into account the social characteristics of a person and the fundamental social conditions of his life and knowledge, seems necessary so as not to impoverish the issues under consideration and not to reduce them to any one aspect.
The complex set of social problems put forward by the modern stage of development of human genetics confirms the words of V.I. Lenin that “... natural science cannot do without philosophical conclusions in any case” and 1 In turn, new problems that have arisen in connection with the application of the achievements of genetics in society requires deepening philosophical ideas about man. One of the shortcomings of research on social problems of human genetics is the incompleteness of the development of a holistic concept of human genetics as a science, formed at the intersection of social and biological research of human heredity. N.P. Bochkov clearly and clearly notes: “Today there is a need for a systematic presentation
I. Lenin V.I. Poly. collection cit., vol. 45, p. 31. - 14 -philosophical and social issues of human genetics."*. The development and systematic presentation of the most general philosophical foundations for solving social problems of human genetics is a necessary stage of research in this area. V.Y. Lenin wrote: "Whoever undertakes private issues without prior general solutions, he will inevitably at every step unconsciously “stumble” upon these general questions.
This position of V.I. Lenin on the solution of general and particular issues is also used as a structure-forming principle for constructing the work. Hence, the presentation of the topic presupposes a preliminary solution to general issues, an ascent from the abstract to the concrete, and in this work from the general problem of man and his heredity in the first chapter to the problem of the relationship between the social and biological in the study of his heredity in the second chapter. This method makes it possible to solve the problem of the starting point of the study, to formulate the basic philosophical principles without which it is impossible to solve the problem, and also to pose at the beginning of the presentation a number of specific questions that require, as V.I. Lenin wrote, a preliminary solution to the general ones.
If we consider the situation that has developed in human genetics, taking into account the dialectic of internal and external factors in the development of scientific knowledge, then the role of external, sociocultural factors has been studied in more detail in the philosophical literature.
Bochkov N.P. Methodological and social issues of modern human genetics. - Questions of Philosophy, 1981, No. I, p. 62.
Lenin V.I. Poly. collection cit., vol. 15, p. 368.
At the present stage of research, there is a need to show the dependence of the development of sociocultural factors on intrascientific factors in human genetics. This will make it possible to concretize the dialectic of interaction between the parties under consideration, and also to show that ultimately the decisive role of sociocultural factors can be established with a deep knowledge of the intrascientific factors of scientific knowledge in human genetics. Bearing in mind internal factors, it should be noted that the weak link of philosophical analysis is the lack of development of the dialectic of human heredity and social environment in the formation of man as a social being. The philosophical significance of this problem is due to the fact that its study is one of the conceptual nodes of the modern problem of man."
Since there is no article on human genetics either in the “Philosophical Encyclopedia” or in the “Philosophical Encyclopedic Dictionary” of 1983, although the relationship between the social and genetic in a person can be classified as a classic cognitive task, we will provide a full definition of this subject, its status and basic problems from the Great Soviet Encyclopedia. “Human genetics is a branch of genetics closely related to anthropology and medicine; Human genetics is conventionally divided into anthropogenetics, which studies the heredity and variability of normal characteristics of the human body, and medical genetics, which studies its hereditary pathology /diseases, defects, deformities, etc./. Human genetics is connected with evolutionary theory, as it studies the specific mechanisms of human evolution and his place in nature, with psychology, philosophy, and sociology.The most intensively developing areas of human genetics are cytogenetics, biochemical genetics, immunogenetics, and the genetics of higher nervous activity. , physiological genetics" ; !
Human genetics in combination with other sciences reveals one of the aspects of the relationship between the social and biological in a person; Therefore, we believe that there is a genetic aspect to studying the relationship between these realities. The mediation of the social and biological has specific mechanisms not only at the biological, but also at the genetic level, which determines some elements of this interaction. Back in 1974, speaking in the journal Nature, discussing the article by evolutionary biologist E. Mayr “Man as a biological species,” I.T. Frolov wrote: “We need a specific program for research into the biological nature of man, which naturally exists and is in the most complex connections and dependencies with his social essence. 1 Quoting this position, I would like to draw attention to indication of the existence of the most complex "connections and dependencies" between the biological nature of man and his social essence. Therefore, the analysis of the relationship between the social and genetic in man is carried out not in general, but in the framework of overcoming the isolation of the study of the social essence of man from the study of him as
Grinberg K.N., Prokofieva-Belgovskaya A.A. Human genetics. - In the book: TSB." 3rd ed., 1971, vol. b, p. 238.
Frolov I.T. Biology and the future of man. - Nature, 1974, W 2, p. 47. a natural, biological creature that has specific hereditary mechanisms. In the work “Medelism and Philosophical Problems of Modern Genetics” in 1976, it was stated that “the very direction of research in the field of human genetics is largely determined by an understanding of the essence of man, the relationship between social and biological / genetic / factors of his development” 1. Studying the literature of recent years, G.G. Poroshenko and V.M. Fedorov showed the relevance of this position for modern human genetics. Obviously, this is the main trend in the research of Soviet philosophers on this issue, which we will adhere to.
Human genetics has accumulated a large amount of factual material that leaves no doubt about the hereditary determination of psychophysiological characteristics, individual differences between people, and the genetic determination of the neurodynamic equivalent of the psyche. While paying attention to the role of genetic factors in the formation of individual human properties, the literature has overlooked the study of the role of genetic factors in the formation of a person as a social being. Using the categories of dialectics: thing, property, relation and taking into account the dependence of the relations and properties of a thing on the nature of the thing itself, the dissertation focuses on the study not of individual properties of a person, but on the material substrate of a person as a social being. Determination of human properties by the interaction of heredity and
I. Shrolov I.T., Pastushny S.A. Mendelism and philosophical problems of modern genetics. - M.: Mysl, 1976, p. 202. - 18-social environment speaks of the greater determinism of the things themselves, that is, of man as the substrate, the bearer of social life. Thus, we are interested in the genetically determined biological prerequisite for the formation and development of man as a subject of social activity.
A scientific understanding of the social problems of human genetics is revealed only from the standpoint of the entire Marxist-Leninist philosophy and in particular the dialectical-materialist solution to the relationship between the social and the biological in man. This approach allows us to identify as social problems of human genetics those problems that are associated with the study of the hereditary mechanisms of the biological basis of man, during which his social characteristics are taken into account, as well as the social conditions of knowledge and the practical implementation of the results obtained. Consequently, dialectical materialism sets a certain conceptual framework that serves as the basis for solving social problems of human genetics.
Let us briefly formulate the purpose, objectives and results of the study. The dissertation aims to analyze social problems that arise at the intersection of social and biological research of man and his heredity: 1/the problem of the qualitative specificity of human heredity; 2/problem of the relationship between social and genetic in humans; 3/problem of integration of social and biological knowledge in human genetics. The implementation of this goal involves solving the following tasks: - consider the methodological significance of the philosophical principles of the material unity of the world, development, reflection and activity for the analysis of the phylogenetic and ontogenetic aspect of the study of the problem of human heredity; show the methodological significance of K. Marx’s discovery of the social essence of man for solving the problem of interaction between natural and social sciences in the study of man and his heredity; show the general and special in human heredity in comparison with the heredity of animals; identify the significant role of the social environment in the implementation of socially mediated features of the organization of human biology, accumulated in its genetic program; to clarify the status of human genetics as a frontier science, emerging at the intersection of social and biological disciplines.
During the research, the following results were obtained.
I. It is shown that human heredity is a qualitatively new form of biological inheritance, which was formed in phylogenesis under the influence of social factors and is realized in ontogenesis under the influence of social and informative influences. The novelty of the result lies in the discovery of the qualitative specificity of human heredity, which lies in the fact that it is not just biological inheritance, but the inheritance of the biological foundations of human social nature, that is, the prerequisites for work, speech and thinking. The basis of biological prerequisites is the entire genotype as an integral system, in which human characteristics are hierarchically determined at different levels (morphological, physiological, neurodynamic and psychodynamic). The qualitative specificity of human heredity is manifested in the fact that it allows a person in ontogenesis, assimilating a social program, to enter into social relations and thereby reveal his social essence, that is, to produce, unlike an animal, by the standards of any species, to assimilate any language and, mastering abstract thinking, penetrate into the essence of any thing. Inheritance of the biological prerequisites for human social formation is a fundamental feature of human heredity and allows us to characterize it as the highest form of biological inheritance.
II. It is shown that the relationship between the social and the genetic in a person has two sides and their relationship is expressed as an essential and necessary connection. The first side is that a/ genetic is primary in human ontogenesis in relation to his social essence, b/ genetic is a necessary but not sufficient prerequisite for the formation of human sociality. The second side is that the social determines the forms of implementation of the laws of specific / socialized / human heredity, that is, such a feature of its organization that arose during anthroposociogenesis under the influence of social factors and is not realized outside the social environment. Because of this, a person in ontogenesis acquires a social essence not in accordance with the laws of his biological heredity, but according to the laws of social development, more precisely, according to the law of interaction of social and genetic factors in human development, according to which social factors are decisive in relation to the socialized heredity of a person . The novelty of the result lies in the concretization of the general principle - 21 - of the interaction of the social and biological in a person in relation to his separate side associated with genetic mechanisms.
III. It is shown that the integration of social and biological knowledge in human genetics consists of: І/ in the development of boundary problems between natural science and humanitarian knowledge of man; 2/ in the formation of a biosocial method of knowledge of human heredity, in the process of which the following are taken into account: connections with previous levels of organization of matter, with the surrounding natural and social environment, social characteristics of a person, social conditions of knowledge, social consequences of the practical implementation of the results obtained; 3/ in the formation of the theory of a biosocial object in human genetics, which is based on system-structural analysis and the principle of historicism in explaining human heredity as a complex phenomenon included in a more general system. The novelty of the result lies in the fact that the content of the subject of research has been brought to an adequate form, which is the concept of human genetics as a biosocial discipline. Human genetics studies not just the heredity of a person, but the person himself who has heredity, which is the prerogative of socio-philosophical analysis, developing within the framework of the biosocial type of cognition. In general, it is shown that modern achievements of human genetics, contrary to the bourgeois concepts of biologization and vulgar sociologization, concretize the relationship between the social and biological in man and deepen the Marxist teaching about his social essence.
Dialectical-materialistic principles of studying man and his heredity
All of them are connected with three main ideological problems: how the essence of man is understood, the essence of the external infinite world and the essence of man’s relationship to the world, including here issues of relationship to society, to himself, to his future. With the development of society, the role of human science is steadily increasing. Man is increasingly becoming a subject of genetic knowledge. The study of human heredity and the practical implementation of the results obtained give rise to not only biological, but also social problems. In order to comprehensively study human heredity and understand the severity of emerging social problems, it is necessary to briefly consider the most general dialectical-materialist approach to the human problem. Thus, we will solve the question of the starting point of this study. The starting point must have a number of features necessary in order to expand the research and arrive at this point at the end, but in an enriched and specific form.
K. Marx and Z. Engels in “German Ideology” specifically highlighted the premises with which they begin. These premises are established empirically and they are not arbitrary, but real. Such a starting point for research is “human individuals” considered in their activities. The first concrete fact, which, according to K. Marx and F. Engels, must be stated is “the bodily organization of these individuals and their relationship to the rest of nature determined by it.” They further note that “we cannot, of course, delve into either the study of the physical properties of people themselves, or the study of natural conditions.” Already at the starting point, K. Marx and F. Engels do not contrast the philosophical understanding of human nature with the particular scientific aspect of its research. In general, with the emergence of Marxism, the nature of the study of the human problem changed radically. We see the essence of this change not in the opposition of the particular scientific and philosophical aspects, but in the deepening of the philosophical / Marxist / understanding of human nature on the basis of the latest scientific concepts. This study attempts to study the hereditary properties of people and the conditions for their implementation in the aspect of the social essence of man. The classics of Marxism note that the bodily individual represents the true basis and starting point for the study of man. F. Engels writes: “We must start from the “I”, from the empirical, bodily individual, but not in order to get stuck on this..., but in order to rise from it to “man.” “Man” always remains a ghostly figure , if its basis is not empirical man."
In contrast to Feuerbach's unity of man and nature, K. Marx showed in principle that man is not only a natural being, but is a social natural being. This distinguishes the starting point of K. Marx’s research from Feuerbach and Hegel with his identity of being and thinking, which is based on the idea of the spiritual essence of the world as a whole. If Feuerbach considered the unity of man and nature as something direct, then K. Marx showed that this unity is mediated by society, that is, it does not appear abstractly, but concretely. Consequently, the starting point of the study is man, but man not simply as a natural, but as a social natural being, with properties corresponding to a social being, manifested in certain social relations and material conditions of life.
To deepen the philosophical analysis of man as a social natural being, in the future it will be necessary to use a number of dialectic concepts: abstract-concrete, essence-phenomenon, content-form, thing-property-relationship, substrate-function, etc., as well as concepts taken from biology: phylogeny-ontogenesis, heredity-variability, organism-environment, individual-population. When solving the question of the relationship between the social and biological in a person and studying his heredity, they form the conceptual field of the problem.
Marxist-Leninist understanding of the relationship between social nature and the biological basis of man
There is a structural correspondence between the reflected and the reflecting;1 The development of reflection is accompanied by a complication of the nature of this structural correspondence. The transfer of structures from one material system to another has its own specificity for the biological form of reflection at the genetic level. A significant difference between living self-organizing systems is the ability to maintain their qualitative specificity due to the presence of special code mechanisms that regulate the relationship of the organism with the environment. GGri, “the control code process should be least connected with the nature of those substances, the parametric processes in which it controls, and least dependent on their chemical nature. Coding simple processes using codes built on new properties that appeared as the system became more complex , makes it possible to encode a code and ultimately leads to codes as far from the molecular level as language and writing,”
The genetic apparatus is not the only form of maintaining the stability of self-organizing systems and regulating the relationship of the organism with the environment. K. Wadington also called the genetic apparatus “a magnificent learning device.” During the evolution of living systems, the brain appears - an apparatus for regulating signal relationships with the environment, which expands the adaptive capabilities of the organism. Yu.G. Troshikhina emphasizes the importance of “the brain as an apparatus that is created in evolution as an addition to the genetic apparatus.” In addition to the genetic apparatus that regulates species experience, there arises a brain that regulates individual experience. If the genetic apparatus is responsible for substrate continuity in the evolution of a species, then the brain is responsible for functional continuity between generations.
The transition from the biological organization of matter to the social is accompanied by a complication of the biological type of inheritance and the emergence of a completely new type of transmission of characteristics of the genus from generation to generation, which is based on the reproduction of the most important elements of material and spiritual culture E.I. Kukushkina notes that “with the transition to a new, social The stage of reflection changes not only the subject and content of inheritance, but also its very method. Now internal and immediate processes are accompanied by external and indirect ones"; The material organization of human heredity is the highest form of biological reflection at the genetic level. Without the material mechanisms of human heredity, it would be impossible for him to become a social being, either in phylogeny or ontogenesis.
The principle of activity emphasizes the active nature of a person’s relationship to the world around him. At the stage of social organization of matter, with the advent of man and his work activity, a universal ability for the ideal and material reproduction of the objective world arises. The universality of a person expresses one of the aspects of his essence, the moment of the qualitative specificity of a person. K. Marx writes: “...An animal produces only itself, while man reproduces all of nature” -1; An animal interacts with nature to the extent of the hereditary program of its species, but a person is capable of producing according to the standards of any species. The ability of a person to produce according to the standards of any species is not programmed, but has as a prerequisite a universal hereditary program that is realized in the social environment.
Since a person arises as a result of the development of the world, he, to a certain extent, “inherits” some of the content of this world. The “inherited” content is realized in the form of unlimited possibilities of human practice and thinking. These possibilities of human activity are based on its natural prerequisites, including the physical existence of man and his heredity; - Consequently, the ontological basis of the universality of man is that human existence dialectically includes lower levels of organization and forms of movement of matter that exist in inanimate nature and the organic world .
The relationship between the social and the biological in the study of human heredity
The study of the relationship between the social and the biological in man shows that the formation of a person’s social essence is impossible not only without the social environment, but also without certain biological prerequisites that were formed during anthroposociogenesis; - Biological prerequisites include human heredity, which has general and specific, social indirect features. The influence of social factors on genetic mechanisms during human phylogenesis and ontogenesis raises the problem of the relationship between the social and the biological in the study of human heredity. This problem is the subject of natural scientific and philosophical analysis. In Marxism, the natural scientific understanding of man deepens to a philosophical understanding of the relationship between the social and biological in man. In order to reveal the specifics of the socio-biological problem in anthropogenetics, it is necessary to show what the dialectic of the social and biological in human heredity consists of. However, this is not enough, since the ratio of social and biological in a person’s heredity changes in the process of the historical development of the person himself. Depending on the degree of man’s dominance over nature and himself, his body acquired socially determined characteristics that allowed him to better assimilate collective experience and participate in social communication, which at the initial stage of history increased the individual’s chances of survival in the struggle for existence and continuation of himself in posterity . The historical approach to the study of human development requires a dialectical consideration of the transition from anthropogenesis to sociogenesis and is most fully expressed in the doctrine of anthroposociogenesis. The concept of “anthroposociogenesis” is composite and is formed from the concepts of “anthropogenesis” and “sociogenesis” and, accordingly, is broader than each of them taken separately. Anthropogenesis, as a branch of anthropology, studies the origin of man, the evolution of his physical organism, and anthropogenetics studies the genetic mechanisms of the process of anthropogenesis. The term "anthropogenetics" differs from the term "human genetics", but sometimes in the literature they are used as synonyms. Human genetics includes anthropogenetics and studies the genetic mechanisms of human development throughout anthroposociogenesis.
There are still many unsolved problems in anthropogenetics. N.P. Dubinin emphasizes that “it still remains a mystery what the essence of the genetic preparation of one of the animal species was, which provided it with the opportunity to reach a qualitatively new level of development - the level of the social form of the movement of matter.” The essence of biological evolution, which ensured the transformation of hominids, is, according to N.P. Dubinin, in the creation of the physical appearance and all the anatomical and physiological characteristics of human guests in accordance with the activity and development of his consciousness. All this happened under the dominant influence of social factors and the gradual displacement of biological factors. The author calls this form of evolution harmonizing, as a result of which a “fusion” of the social and biological arose. “Therefore, the physical characteristics of a person, representing the natural biological nature of a person, at the same time deeply reflect his social essence. At the same time, N.P. Dubinin, according to I.T. Frolov, excessively separates biological and social inheritance, the two programs in man. This is a very complex problem and it still requires its own research with the involvement of natural science data and philosophical ideas about the transformation of the biological into the social in man and the reflection of this process in his heredity. Only in this direction can one find the answer to the question why man in ontogenesis is different from from an animal can assimilate the cultural experience of humanity.
Philosophical understanding of specific facts that are established by genetics is of great importance. Research in molecular anthropology at the University of California, Berkeley, has shown that about five million years ago there was a divergence between the lineage leading to humans and other primates.
Qualitative specificity of human heredity as a social being
The question of the qualitative specificity of human heredity arose in connection with the study of the negative and positive consequences of the impact of scientific and technological progress on human development. This problem is widely studied by modern philosophers and geneticists. Bochkov N.P. notes: “One of the key questions of human genetics is the question of the structure and functioning of the material foundations of heredity. Information on each of the three levels of organization of hereditary structures /gene, chromosome, genomic/ has been accumulating in recent years with amazing speed, and one can hope that it will not be far the time when a fairly complete picture of human heredity will be compiled." When compiling a holistic picture of human heredity, the need arises to study the relationship between biological heredity and the social quality of a person. A scientific solution to this issue requires turning not only to natural science, but also to Marxist-Leninist philosophy. The fact is that human heredity is a special form of biological inheritance that does not exist in the animal world. Unlike the heredity of all other living organisms, human heredity depends to a certain extent on his social quality. But at the same time, every phenomenon of heredity, even specifically human, is a function of genes and the entire organism and is caused by certain biological processes, necessarily embodied in the biological structure. The study of complex and multi-level hereditary processes, reflecting the characteristics of human biology, is a necessary stage in the development of human genetics.
Molecular biology can determine the percentage similarity of heredity between humans and chimpanzees. Information theory can show the difference in the information capacity of human heredity and other living organisms. The index of dissimilarity of genetic information, which allowed man to go beyond biological evolution, is being investigated. However, neither molecular biology nor information theory can establish the qualitative specificity of human heredity as a special form of biological inheritance that exists in connection with human social existence. Human heredity, described at the molecular-biological and information-cybernetic level, is not human heredity in the full sense of the word. Such a description is only a necessary prerequisite for explaining human heredity. To identify its specificity, it is necessary to turn to the philosophical problem of the relationship between the social and the genetic in a person, where a new systemic quality of his genotype is discovered.
The study of the unity of the social and genetic in man shows that the material mechanisms that ensure this unity, embodied in the integral heredity of man, represent a special, highest form of biological inheritance. All other forms of biological inheritance are simpler and, in terms of their degree of structural complexity, are much lower than the hereditary prerequisites for the social formation of a person. For their implementation, they do not require such complex living conditions as the social environment, including a long period of training, or a complex of social and informative influences. The concept of the highest in explaining human heredity means that this form of inheritance appeared as a result of socially determined biological evolution of man. The concept of the highest is correlative with the concept of the lowest. These concepts reflect the role of social and biological factors in the formation of the human genetic program during anthroposociogenesis. The higher means a more complex phenomenon than the lower; it is connected with the lower and is based on it. The complexity of the higher lies not only in the emergence of new relationships with the environment, but also in the emergence of new elements and their connections in the inheritance system that ensure the functioning of these relationships. Human heredity, as a more complex form of biological inheritance, has accumulated such features of a person as a social being, which allows a child to become a person by learning in a social environment, without any direct intervention in his genotype.
The results of monitoring hereditary diseases indicate an increase in genetic load in human populations. Genetic load is the entire spectrum of mutations that reduce the adaptive properties of the organism, including lethal mutations. One of the reasons for the growth is severe environmental pollution, which is a by-product of civilization. Constant man-made disasters and military conflicts lead to climate change, the emergence of new mutagenic factors in the environment or an increased concentration of old ones. The magnitude of mutation pressure is very high. According to American geneticists, in each generation about half of the zygotes do not produce offspring. The genetic stability of human populations is based on the fact that each subsequent generation mainly appears from phenotypically normal people. But if the environment is heavily polluted, a situation may arise when 100% of the eggs carry harmful mutations.
The threat of the degeneration of humanity has been troubling the minds of thinkers and philosophers for a long time. Issues of heredity, deterioration, and degeneration of races were addressed in the Bible, in Indian sacred books, and in classical myths. In the Bible, all kinds of punishments were foreshadowed for the people of Israel for violating the purity of the race. In Sparta, a whole system of social and hygienic regime was created, which deliberately aimed at improving human nature.
Charles Darwin did not ignore this problem either. In his work “The Descent of Man” he wrote: “Man studies with the greatest care the properties and pedigrees of his horses, cattle and dogs before pairing them up; but when it comes to his own marriage, he rarely or never shows such discretion. Meanwhile, he could contribute through reasonable selection not only to the development of the physical build and appearance of his descendants, but also to the development of physical and mental qualities.”
Darwin's views and his doctrine of selection had a great influence on his cousin, the famous biologist F. Galton, who became the founder eugenics- teachings about human improvement. He saw the task of eugenics in the development of methods and means that can change the biological properties of a person for the better. Galton created the concept of genetic determination of a person’s spiritual sphere, declaring that a person’s intellectual abilities, his moral qualities, and forms of behavior in society are innate properties and are passed on to offspring. It followed from this that social conditions do not influence the formation of man, and the only way to improve the human race is through selection. He proposed applying the same selection methods to humans as to animals - crossing and selection. He saw the main difficulty in realizing his ideas in the fact that people cannot be forcibly crossed, like animals. To overcome this obstacle, i.e. forcing people to enter into predictable marriages or refuse to produce offspring, according to Galton, is possible only if the ideas of eugenics take possession of the mind of every person.
At the end of F. Galton's life (he died in 1911), the eugenic movement had its representatives in many countries of the world. Eugenic societies appeared in Germany under the leadership of A. Rosenberg and others, in the USA - C. Davenport, in the USSR - N.K. Koltsova. Developing Galton's views, his supporters formulated a number of provisions that are known as positive and negative eugenics. The most complete expression of the ideas of positive genetics was found in the views of the outstanding American geneticist, Nobel Prize winner G. Möller. In the 30s he put forward the idea of “germinal choice.” He proposed introducing artificial insemination of women into practice, using sperm from special donors for these purposes. G. Meller named Descartes, Pasteur, Lincoln and other outstanding figures who lived at different times as prototypes of such donors. Proponents of negative genetics proposed developing measures that could lead to a decrease in the frequency of unfavorable genes in human populations. These included: the prohibition of interracial marriages, the sterilization of the lower class, criminals, and the weak-minded, and the legal restriction of families among the lower classes. In extreme terms, the ideas of negative genetics boiled down to the creation of a superior race (in the USA - the American white race, in Germany - the Aryan race) and the physical extermination of inferior races (including the Slavic). It was negative eugenics that became the theoretical basis for fascism and racism. And it is quite natural that with the defeat of fascism, scientific circles lost interest in eugenics.
A new surge of eugenic ideas occurred in the 70s. 20th century, when a movement called “biocratism” appeared in the USA and Western countries. It again proclaimed the need for human improvement using genetic methods. The impetus for its appearance was largely the successes that have been achieved in the field of molecular genetics. Biocrats considered man to be an extremely imperfect creature, unable to effectively adapt to the dramatically changing environmental factors caused by his activities. In this regard, it was argued that man as a species, like many species of living beings that lived in the past but became extinct in the course of evolution, could also fade away. Therefore, using the achievements of genetics, it is necessary to create a new person - Homo futurus. The parameters of his brain should far exceed those of a modern person. His physical abilities should be enhanced by the formation of additional thumbs, as well as protruding eyes. It is necessary to introduce genes into the human genetic apparatus that would ensure the development of a two-chamber stomach, adapted to digest cellulose in case of food shortage. More odious ideas were also expressed. For example, the idea of cloning legless astronauts, who will take up less space in spacecraft cabins and need less food and oxygen on long space flights, or the idea of cloning geniuses, of creating memory pills.
However, the difficulties of practical implementation of the achievements of genetics in relation to humans forced us to turn to old eugenic ideas, including the idea of “germinal choice” by G. Meller. By this time, sperm banks had already been created, the services of which are used annually by several tens of thousands of women in the United States.
The problem of changing human heredity using genetic engineering methods has caused heated debate among geneticists. In connection with the emergence of biocratism, many outstanding foreign and domestic scientists criticized experiments aimed at drastic interference in the human genome. These include Nobel Prize laureates D. Lederberg, F. Crick, D. Beadle, D. Watson and others. The famous Russian geneticist N.P. Dubinin stated that it is unlawful to raise the issue of interference in human genetic nature in a broad sense. It can only be raised in connection with some specific problems of medical genetics, such as the treatment of hereditary diseases in individuals. As for intervention in heredity for selection purposes, given the still limited capabilities of modern genetics, it is unacceptable. From the point of view of scientists studying ethical problems, the implementation of eugenic programs can lead to the disintegration of the family and other human values that underlie the morality of human society. Scientists experimenting in the field of human genetic engineering must be clearly aware of how great their responsibility is to people. The following example can be given. In Scotland, several men were found among prisoners who had an extra Y chromosome. On this basis, the erroneous conclusion was made that the Y chromosome contains “crime genes.” The scientists who discovered this phenomenon wrote that men who carry an extra Y chromosome are “dangerous, aggressive, mentally retarded psychopaths.” A debate began about whether such individuals should be isolated from society. However, a more thorough study showed that the presence of the XYY constitution in men is quite common, amounting to 1: 1100 in newborns, and the number of men with this karyotype in prisons does not exceed their frequency in the normal human population. Moreover, androgen therapy for boys with XXY, started at the age of 12, can have a positive effect, increasing mental characteristics and improving the psychological properties of the individual.
Geneticists bear a great responsibility to humanity, for modern genetics can bring either great good or great misfortune, depending on whose hands its conquests are in. It is not for nothing that deciphering the genetic code has been compared in importance to the discovery of nuclear energy in physics.
At this stage, the main research in the field of human genetics is carried out within the framework of the International and national “Human Genome” programs, which are implemented in the USA, Western Europe and Russia. The global goal of the program is the structural and functional analysis of the human genome. The most complex and time-consuming parts of the analysis are mapping and sequencing. In the broad sense of the word, mapping is the determination of the location on the chromosome of various genetic elements (genes, markers, mutations, restriction sites, etc.). It is carried out using two methods: genetic and physical. Genetic mapping is based on the analysis of linkage and recombination of genes using pedigree data. It establishes the order of genes on a chromosome. Physical mapping is the precise determination of the location of a particular DNA fragment on a chromosome based on the results of restriction analysis or molecular hybridization using cDNA. The last stage of physical mapping is the determination of the complete DNA nucleotide sequence using modern sequencing technologies. It has been established that one human cell contains 3.2 billion nucleotide pairs - this is a gigantic amount of genetic information. The human genome contains ~50-60 thousand genes. They account for only 3% of the total length of DNA; the functional role of the rest of the DNA is not yet known. The largest number of genes is necessary for the formation of the brain and maintaining its activity, the smallest is for the creation of red blood cells - only 8 genes.
In the “Human Genome” program, much attention is paid to identifying genomic diversity associated with human origins, the emergence of races, ethnogenesis, etc. The main applied aspect of the program concerns the identification of genes responsible for hereditary diseases, which is necessary for the development of gene therapy. Particular attention is paid to identifying the so-called. “susceptibility genes”. These are mutant alleles that, under adverse influences, can contribute to the development of the pathological process. Thus, more than 200 genes are known that are responsible for the detoxification of xenobiotics - harmful substances entering the body from the environment. Among them, mutant, incompletely functional forms were found, which can be considered “susceptibility genes.” For example, a defective allele of the gene encoding the enzyme glutathione-S-transferase, which utilizes the products of the primary breakdown of xenobiotics, is present in almost 40% of the Russian population. Against the background of alcoholism, people with this genotype more often develop cirrhosis of the liver. A connection has been established between this gene and a number of other genes with the development of tumors. Some “susceptibility genes” relate to the regulatory system. Thus, the vitamin D receptor gene (VDR-3) has a functionally defective allele with a mutation in exon 9. Homozygotes for this allele account for 16% of people of the white race. Such people often suffer from osteoporosis, a disease associated with decreased bone density, which leads to an increased likelihood of fractures. Identification of “susceptibility genes” is important for the prevention, prognosis and treatment of the disease.
Gene therapy is the treatment of diseases by introducing genes into patients’ cells in order to compensate for a genetic defect or give the cell new functions. The first clinical trials of gene therapy methods began in 1989. Most of these projects concern the treatment of cancer, as well as HIV infection (AIDS). All of them undergo strict examination in the relevant committees and commissions. The development of a gene therapy program is preceded by a thorough analysis of the tissue-specific expression of the corresponding gene, identification of the biochemical defect, and study of the structure, function and distribution of its protein product. Preliminary testing of the gene correction procedure is carried out on a patient’s cell culture. The success of the first clinical trials stimulated the development of gene therapy approaches to treat other types of hereditary diseases, as well as non-hereditary diseases.
The development of new technologies based on the manipulation of genetic material has again raised ethical problems for geneticists. Here is the first one. Deciphering the genomic structure has made DNA certification of people technically accessible. It will help avoid the birth of children with hereditary defects or carry out preventive treatment to prevent the development of the disease. But at the same time there is a risk of discrimination against people based on genetic information, for example, in insurance and employment. One more example. The widespread use of genomic research in forensic medicine makes it possible to solve many important problems, such as establishing the relationship of people, biological paternity, involvement of a person in committing crimes, etc. However, at the same time, the possibility of falsifying this data and using it for unseemly purposes arises.
Thus, the progress of genetics, the apotheosis of which is gene therapy, on the one hand, opens up broad prospects in the treatment of severe hereditary and non-hereditary diseases, and on the other, puts society in the face of serious problems, on the solution of which not only the physical, but also the spiritual health of humanity depends .
Genetics is the biological science of the heredity and variability of organisms and methods of controlling them. The central concept of genetics is the “gene”. This is the elementary unit of heredity. At its level, a gene is an intracellular molecular structure. In terms of chemical composition, they are nucleic acids, in which the main role is played by nitrogen and phosphorus. Genes are located, as a rule, in the nuclei of cells. They are present in every cell, and therefore their total number in large organisms can reach many billions. According to their purpose, genes are a kind of “brain center” of cells and, consequently, of the entire organism.
Reproduction of one's own kind and inheritance of characteristics is carried out with the help of hereditary information, the material carrier of which is molecules of deoxyribonucleic acid (or, in short, DNA). DNA consists of two strands running in opposite directions and twisted around each other like electrical wires. DNA molecules are like a set with which an organism “begins” in the printing house of the Universe. A section of a DNA molecule that serves as a template for the synthesis of one protein is called a genome. Genes are located on chromosomes. If DNA is the keeper of genetic information embedded in the sequence of bases along the DNA chain, then RNA (ribonucleic acid) is able to “read” the information stored in DNA, transfer it to the environment containing the starting materials necessary for protein synthesis, and build the necessary protein molecules from them .
Genetics went through seven stages in its development:
1.Gregor Mendel(1822-1884) discovered the laws of heredity. The results of Mendel's research, published in 1865, attracted no attention, and were rediscovered only after 1900 by Hugo de Vries in Holland, Karl Correns in Germany and Erich Cherman in Austria.
2.August Weissman(1834-1914) showed that sex cells are separate from the rest of the body and therefore are not subject to influences acting on somatic tissues.
3.Hugo de Vries (1848-1935) discovered the existence of heritable mutations that form the basis of discrete variability. He suggested that new species arose due to mutation.
4.Thomas Morgan (1866-1945) created the chromosomal theory of heredity, according to which each biological species has a strictly defined number of chromosomes.
5.G.Meller in 1927 found that the genotype can change under the influence of X-rays. This is where induced mutations and what was later called genetic engineering originate.
6.J. Beadle and E. Tatum in 1941 identified the genetic basis of biosynthesis processes.
7.James Watson and Francis Scream proposed a model of the molecular structure of DNA as a material carrier of information.
The largest discoveries of modern genetics are related to the establishment of the ability of genes to undergo restructuring and change. This ability is called mutation. Mutations for an organism can be beneficial, harmful or neutral. The causes of the mutations are not fully understood. However, the main factors causing mutations have been established. These are the so-called mutagens, giving birth to changes. It is known, for example, that mutations can be caused by certain general conditions in which the organism is located: its nutrition, temperature, etc. At the same time, they also depend on some extreme factors, such as the action of toxic substances and radioactive elements, as a result of which the number of mutations increases hundreds of times, and it increases in proportion to the dose of exposure.
With this in mind, breeders often use various chemical mutagens to provide targeted beneficial mutations. Science has an opportunity not only to study hereditary material, but also to influence heredity itself: to “operate” on DNA, to splice sections of genes of animals and plants that are distant from each other, in other words, to create chimeras unknown to nature. Insulin was the first to be produced using genetic engineering, then interferon, then growth hormone. Later they managed to change the heredity of a pig so that it did not gain a lot of fat, and of a cow so that its milk did not turn sour so quickly. Thanks to human intervention in the design of DNA, the qualities of dozens of animals and plants have been improved or changed.
However, recently, due to environmental pollution and increased background radiation, the number of spontaneous harmful mutations, including in humans, has been increasing. Every year about 75 million children are born in the world. Of these, 1.5 million, i.e. about 2% - with hereditary diseases caused by mutations. Heredity is associated with a predisposition to cancer, tuberculosis, and polio. Defects of the nervous system and psyche, such as dementia, epilepsy, schizophrenia, etc., are known to be caused by the same factors. The World Health Organization has registered over 1,000 serious human anomalies in the form of various deformities and disruptions of vital processes under the influence of mutagens.
One of the most dangerous types of mutagens are viruses. In humans, viruses cause many diseases, including influenza and AIDS. AIDS – acquired immunodeficiency syndrome- caused by a special virus. Getting into the blood and brain cells, it is integrated into the gene apparatus and paralyzes their protective properties. A person infected with the AIDS virus becomes defenseless against any infection. The AIDS virus is transmitted through sexual contact, injection, birth contact between mother and child, and through donor organs and blood. A set of measures to prevent AIDS is now being widely implemented, the most important of which is health education.
Genetic engineering has provided an opportunity to solve problems that are far from both agriculture and the needs of human health. It turned out that with the help of DNA fingerprints it is possible to identify a person much more successfully than traditional fingerprint methods and blood tests could do. The probability of an error is one in several billion. It is not surprising that criminologists immediately took advantage of the new discovery. It turned out that with the help of DNA fingerprints it is possible to investigate crimes not only of the present, but also of the deep past. Genetic examinations to establish paternity are the most common reason for judicial authorities to resort to genetic fingerprinting. Men who doubt their paternity and women who want to get a divorce on the grounds that their husband is not the father of the child turn to the courts.
TOPIC 7. ETHICAL ISSUES IN GENETICS
PLAN
1. GENETICS METHODS AND PROBLEMS.................................................... .. 211
2. BASIC CONCEPTS OF GENETICS.................................................. ... 211
3. METHODS OF GENETICS.................................................... ........................... 212
PEDIGREE OF A FAMILY WITH PATIENTS WITH DIABETES AND NEUROFIBROMATOSIS......................................... ........................... 213
4. GENETICS OF POPULATIONS AND CONSERVATION OF BIODIVERSITY 215
5. SOCIAL PROBLEMS OF GENETICS.................................................... 216
5.1. MEDICAL-GENETIC COUNSELING.................................. 217
5.2. GENETICS and the problem of cancer.................................................... ...... 220
6. environmental genetics.................................................... .......... 221
list of sources used.……………….……… 222
GENETICS METHODS AND PROBLEMS
Genetics is a branch of biology that studies heredity and variability. Man has always sought to control living nature: the structural and functional organization of living beings, their individual development, adaptation to the environment, regular numbers, etc.
Genetics has come closest to solving these problems, revealing many patterns of heredity and variability in living organisms and putting them at the service of human society.
This explains the key position of genetics among other biological disciplines.
As soon as genetics was born, many problems immediately arose: social, economic, etc. Now, in our time, they are especially acute due to the current environmental situation on the planet.
BASIC CONCEPTS OF GENETICS
Genetics studies the laws of heredity and variability that underlie the evolution of the organic world.
Heredity is the ability of an organism to transmit its characteristics and developmental characteristics to subsequent generations.
Variability is the property of organisms to acquire new characteristics in the process of individual development.
The set of genes that an organism receives from its parents constitutes its genotype.
The combination of external and internal characteristics is a phenotype.
Such individuals that do not exhibit cleavage in their offspring and retain their characteristics in a “pure” form are called homozygous.
Individuals who exhibit the phenomenon of segregation in their offspring are called heterozygous.
GENETICS METHODS
Genealogical or method of analysis of pedigrees.
At the same time, they study any normal or (more often) pathological sign in generations of people who are related.
As a rule, the genealogical method forms the basis for conclusions in medical genetic testing. To implement the genealogical method, it is necessary to compile a pedigree. Thus, the individual whom the study begins is called probaid, siblings are siblings. It is important to know the exact pedigree connections between the probaid and each member of the pedigree. Each member of the pedigree has its own code.
After compiling the pedigree, genealogical analysis begins, the purpose of which is to give a conclusion about the hereditary conditionality of the trait.
Currently, the inheritance of many normal and pathological traits in humans has been studied.
TWIN METHOD
Twins can be identical or fraternal.
About 30 million fraternal and 15 million identical twins live on earth.
PEDIGREE OF A FAMILY WITH PATIENTS
DIABETES AND NEUROFIBROMATOSIS
Neurofibromatosis
Personally examined
The Key to Pedigree Analysis
Male face female face
Gender unknown
Sibling marriage
identical twins
miscarriage abortion stillborn
Childless marriage deceased probaid
Since the fragmentation of gold is carried out by mitosis, identical twins with the same genotype develop from the divided blastomeres. All differences between twins are due solely to the influence of the external environment. Therefore, studying the manifestation of traits in identical twins, especially if they grew up in different conditions, allows us to more reliably assess the role of the external environment in the implementation of the action of genes. The role of the environment in the manifestation of many hereditary diseases is very large. This is evidenced by data on the frequency of hereditary diseases in identical twins in the event that one of a pair of twins gets sick:
Diseases Probability of disease
Second Gemini in case
Diseases of one of them in (%)
Tuberculosis 66.7
Schizophrenia 69.0
Diabetes mellitus 65.0
HYBRIDOLOGICAL METHOD
(CROSSING METHOD)
Developed by Mendel and is fundamental in genetic research.
By crossing you can establish:
1. Is the trait being studied dominant or recessive?
2. genotype of the organism
3. interaction of genes and the nature of this interaction
4. gene linkage phenomenon
5. distance between genes
6. linkage of genes with sex.
CYTOGENETIC METHOD - this method consists of studying the number, shape and size of chromosomes in animals and plants. It is very valuable for identifying the causes of a number of human diseases.
4. POPULATION AND CONSERVATION GENETICS
BIODIVERSITY
Among the areas of perfect science, the line of research united within the framework of the problem of “man and the biosphere” is increasingly coming to the fore.
In various countries of the world, efforts have been made to stabilize and improve the habitat, and measures are being planned to protect the biosphere.
And yet, over the last 100 years, human activity has led to the disappearance of up to 25 thousand species of higher plants and more than 1 thousand species of vertebrate animals from the face of the Earth.
What caused the reduction in species diversity? Is it just because fishing pressure has increased or the historical living conditions have changed?
Answers to these questions can be sought using different approaches and methods. Among them, the population genetic approach is important. Population genetics uses mathematical models. Models may be adequate or inadequate, but they are all interesting in that they allow research to be planned in a certain way.
Population genetics originated at the beginning of this century, but for a long time the life of populations could only be studied on those organisms – usually of no economic value – that had some external hereditary characteristics.
However, many species are outwardly uniform, monomorphic - their genes are, as it were, hidden from the observer and, therefore, genetic analysis is impossible.
SOCIAL PROBLEMS OF GENETICS
Intensive development of genetics makes it possible to more effectively combat hereditary diseases, which have now become very common.
According to health data from different countries, about 5% of children with hereditary pathologies are born annually in the world. In general children's hospitals, at least 20% of children are hospitalized with hereditary diseases.
Over 2000 hereditary pathologies, syndromes and anomalies are known, manifesting themselves in the form of various physical defects, mental disorders, infertility, and premature death.
Hereditary defects arise for three reasons:
The first is gene mutations.
The second source is a violation of the number of chromosomes.
The third is a variety of disturbances in the structure of chromosomes in the germ cells of the parents.
The harsh reality of our days is the threat of global nuclear war.
Scientists began studying the effect of radiation on heredity back in the 1920s. Ionizing radiation has a harmful effect not only on patients and radiologists, but also on their offspring. Radiation causes mutations in any organism and in humans in particular. Even small doses of radiation lead to the appearance of a certain number of new mutations.
High doses of radiation lead to the death of living organisms.
When exposed to ionizing radiation, two types of chromosome changes occur. Various changes in the chemical structure of chromosomes lead to chromosomal rearrangements and are the result of chromosomal mutations. Chromosome breaks and loss of sections or attachment of chromosome fragments to other sections are possible.
Numerous studies have been conducted by geneticists and radiobiologists to determine the dependence of the number of mutations on the radiation dose.
The results obtained had a general pattern. The number of mutations is directly proportional to the radiation dose.
Radiation leads to chromosomal diseases, in which a person’s chromosome set is missing or has an extra chromosome.
Genetics faces the problem of studying mutations, trying to predict them in order to maintain life on the planet and preserve the gene pool.
