My genotype and my personal merit project. The future of mankind and the progress of genetics
Codominance - Signs appear simultaneously, i.e. Both alleles of the same gene are expressed. Example: Inheritance of the IV blood group. The AB0 system in humans, where A and B are dominant genes (codominants), and 0 is recessive. Blood typeGenotype I (0)ii (I 0 I 0) II (A)I A I A, I A I 0 (I A i) III (B)I B I B, I B I 0 (I B I 0) IV (AB)IAIBIAIB
Solve the problems: 1. The mother has the first blood type, the father has an unknown one. The child has the first blood group. Can a father have a second blood type? 2. A woman with III blood group gave birth to a child with II blood group. Determine the possible blood types of the father of the child and the genotype of the mother.
III. Polymeria - The phenomenon when several non-allelic dominant genes are responsible for a similar effect on the development of the same trait. -The more such genes, the more pronounced the trait. - Example: Skin color, milk yield of cows - The phenomenon when several non-allelic dominant genes are responsible for a similar effect on the development of the same trait. -The more such genes, the more pronounced the trait. - Example: Skin color, milk yield of cows - Alleles of different genes denote A 1 A 1 A 2 A 2, a 1 a 1 a 2 a 2
Problem: The son of a white woman and a black man marries a white woman. Can a child from this marriage be darker than his father? A 1 A 1 A 2 A 2 (or AABB) - Negroes A 1 a 1 A 2 A 2 (AaBB), A 1 A 1 A 2 a 2 (AABB) - dark mulattoes A 1 a 1 A 2 a 2 (AaBv ), A 1 A 1 a 2 a 2 (AAvv), a 1 a 1 A 2 A 2 (aaBB) - medium mulattoes A 1 a 1 a 2 a 2 (Aavv), a 1 a 1 A 2 a 2 (aaBv ) - light mulattoes a 1 a 1 a 2 a 2 (aavb) - white ____________________________ P a 1 a 1 a 2 a 2 x A 1 A 1 A 2 A 2 G a 1 a 2 A 1 A 2 F 1 A 1 a 1 A 2 a 2 x a 1 a 1 a 2 a 2
F 1 A 1 a 1 A 2 a 2 x a 1 a 1 a 2 a 2 G A 1 A 2, A 1 a 2, a 1 A 2, a 1 a 2; a 1 a 2 F 2 A 1 a 1 A 2 a 2, A 1 a 1 a 2 a 2, a 1 a 1 A 2 a 2, a 1 a 1 a 2 a 2 medium mulatto light mulatto light mulatto white Ratio 1:2:1, a child cannot be darker than his father
IV. Pleiotropy (from the Greek Pleion - numerous and tropos - direction) - one gene determines the development of several characteristics and properties of organisms. Feature: early manifestation in the body; Example: In mice, a gene that causes underdevelopment of all bones. In humans, Marfan syndrome is a disease of the human connective tissue.
For research work on the page, you can select relevant genetics project topics for students in grades 9, 10 and 11 of a general education school. These research projects must be carried out under the guidance of a biology teacher - project leader.
The presented topics of projects on genetics are not final and can be modified upon agreement with the project leader. The main thing is that the chosen topic for the project should be interesting and correspond to the level of knowledge of the author.
The topics of research papers on genetics outlined below are also suitable for independent study by students in grades 9, 10 and 11 of genetics and preparation for optional classes in this subject.
The proposed topics of research project work on genetics raise such issues as the history and theory of the science of genetics, genetic features of development, the genetic fund of the nation, hereditary diseases, human evolution, etc.
also in topics of genetics projects the use of the following concepts in the student's research work is envisaged: genome, gene, genotype, genetics, cloning, mutations, genomics, etc. The student must have in-depth knowledge of biology.
The topics of the projects provide an opportunity for schoolchildren to consider such concepts as the migrating genome, nanotechnology, artificial organs, as well as explore the nature of aging. It is important to carefully approach the choice of the topic of project work in the field of genetics, the teacher's advice will be needed.
Project topics on genetics
Research topics for students in genetics:
Analysis of the human genome at different levels of its organization.
Will the genetic foundations of the mind be deciphered?
Influence of genes on predisposition to arterial hypertension.
Harmful and beneficial mutations
Identification of causes negatively affecting the human genotype.
G. Mendel and his contribution to the development of genetics.
Genetics and man.
Genetics: a modern approach.
Genetic features of individual development.
Genetic Fund of the Nation
Genotypic conditionality of intelligence and components of psychophysiological parameters.
Genotype-environmental ratio in the formation of some human traits.
Studying the trait of inheritance in my family using the genealogical method.
Artificial organs - a problem and prospects.
Study of the problems of the morphological structure of schoolchildren.
Classical genetic experiments.
Animal cloning. Problems and prospects.
Methods of human genetic research.
Migrating genome - what is it?
The world of nanotechnologies - possibilities of application in biology and medicine.
Mucopolysaccharidoses.
Mutagens, carcinogens, allergens, antimutagens.
Inheritance of the trait of color blindness in the human genotype?
hereditary diseases.
hereditary diseases. Classification.
Scientific and ethical problems of cloning.
Environment, factors of biotic and abiotic nature that affect the human genotype.
Where are we from? (to the problem of the origin of life)
The consequences of the influence of environmental factors on the human genotype.
Why don't we look alike? (immunological aspects)
Proteomics, genomics, metabolomics - new directions in biology.
Russian school of genetics.
Modern views on the nature of aging.
Creation and development of new varieties of plants.
Comparative analysis of the state of the environment and the frequency of birth of children with congenital and hereditary pathology.
Formation and development of genetics.
Man and the environment are the results of the evolution of human society today.
Human evolution - possible outcomes.
We have made genetic tests accessible and understandable, like consulting a doctor or trainer. The results help our clients improve their quality of life: accurately diagnose and prevent diseases, plan the birth of a healthy child, choose a personalized nutrition and training program, and learn about their origins.
The cost of one block of personal genetics is 18900 rubles, each subsequent block is 5900 rubles
The cost of a comprehensive study (6 blocks of personal genetics) - 32,900 rubles.
For a comprehensive study - a free consultation of a geneticist.
The cost of a comprehensive study (4 blocks of personal genetics: "Health and Longevity", "Diet and Fitness", "Effectiveness of Drugs", "Planning Children") - 28,500 rubles.
Health and longevity
Report on the probability of occurrence of 149 different diseases, including cancer, their description, symptoms, preventive measures, a list of specialized doctors, functional and laboratory tests.
Genealogy Ethnic composition, map of ancestral migration along the line of father and matter from our days to 140 thousand years ago, determination of the proportion of Neanderthal genes in the genome.
Talents and sports Recommendations for choosing the most suitable sports section, information about the genetic characteristics of the psyche and character, predispositions to a high level of intelligence and inclinations towards music, languages and mathematics.
Diet and fitness The program of training and diet, taking into account genetic characteristics. Information about metabolic patterns, injury susceptibility, eating habits, food intolerances, hormonal levels, body type, and the effects of exercise on the body.
Planning for children Information about the presence of potentially dangerous gene variants in parents and the likelihood of having a child with hereditary pathologies. Definitions of carriage of hereditary monogenic diseases
Drug Efficacy Information about your individual response to medications
Each client gets access to a personal account, where he can follow the analysis process and receive all the information on the results. Although genome data is static, interpretation information may change as new scientific discoveries emerge. The study does not provide a printout of the report. There is an option to print a short report (about 10 pages) containing basic information.
Research work
"Genes in our lives".
Ch. 1. Literature review
1. Human genome
2. Genetics and problems of cancer
3. Influence of heredity on aggressiveness and crime
4. Resistance to alcohol, nicotine, drugs
5. The influence of heredity on intelligence
Ch. 2. Practical work
Conclusion
Introduction
People have been interested in genetics for a long time, however, they did not always call the issues of inheritance of certain traits genetics. Simply put, since ancient times, people have been interested in why children, as a rule, look like their parents? And why can a child suddenly show the features of a distant ancestor?
Genetics (from the Greek genesis, which means origin) is the science of heredity and variability of living organisms that live on planet Earth. Why on planet Earth? Because it is not known whether life exists in one form or another elsewhere in the universe.
“Not every tree can carve Mercury,” said Pythagoras. Or, as we would say today, there is a certain primary, basic individuality that determines the further development of a person. Since ancient times, people have tried to classify the types of human character. Since ancient times, there has been physiognomy - the doctrine of recognizing natural individual characteristics, in particular character, according to the physical characteristics of a person, according to his appearance. In the middle of the 17th century, the Italian physician C. Baldo published the first work on graphology, Discourses on the Method of Recognizing the Practices and Qualities of a Writer from His Writing. The study of handwriting for a variety of tasks, including psychodiagnostic ones, continues to this day. Most psychodiagnostic indicators are described by Aristotle and Hippocrates. So what is inherent in the human character from the very beginning, and what is formed under the influence of the environment? And, finally, how these factors interact in the formation of certain psychological functions. This question was posed by Anna Anastasi in her 1958 work Environment, heredity and the how question.
The first work on the genetics of psychological traits, Hereditary Genius by F. Galton, was published in 1869 and is dedicated to the genealogy of prominent people. In other words, it uses the genealogical method. It is based on a simple logic: if any trait is encoded in the genes, then the closer the relationship, the more similar people should be to each other. But the family survey itself, without being combined with other methods, has a very low resolution. When combined with the twin method, familial data make it possible to refine the type of hereditary transmission - additive or dominant, or control for environmental variables, etc.
The first attempt to use twins to solve the problem of "nature and nurture" belongs to Francis Galton. Fascination with twins was quite a characteristic phenomenon for that time. For example, E. Thorndike studied 15 pairs of twins and their single-born brothers and sisters. The results of the study led Thorndike to the conclusion about the pronounced heritability of mental characteristics. The modern twin method looks like this. There are two types of twins - homozygous and heterozygous. Homozygous twins develop from one egg fertilized by one sperm, that is, from one zygote. Normally, one fetus develops from one zygote in a person, but for some reason, which is still not entirely clear to science, sometimes in the early stages of division, the zygote gives rise to two embryonic structures, from which two full-fledged organisms subsequently develop. In this case, each embryo receives exactly half of the parental genes. Homozygous twins are the only people on Earth that have the same set of genes. Heterozygous twins in terms of genetics are siblings, siblings, they develop from two fertilized eggs, that is, two zygotes. The difference from the norm in heterozygous twins is only that they develop and are born at the same time. Like all siblings, heterozygous twins share 50% of their genes. The equality of environmental influences in pairs of homozygous and heterozygous twins is postulated, since they are from the same family, of the same age and sex, develop in the same environment and, therefore, its influence on twin pairs is the same. That allows you to highlight and evaluate the influence of the factor of heredity.
There is also a method called the foster child method. A longitudinal study of adopted children was conducted by the University of Texas and Colorado, which completed their research in 1949. Now the method of adopted twins is theoretically the purest method of psychogenetics, which has the maximum resolution. Its logic is simple: the study includes children who were given as early as possible to be raised by strangers-adoptive parents, their biological parents and adoptive parents. With the former, children share, as first-degree relatives, about 50% of their genes in common, but have no common environment; with the latter, on the contrary, they have a common environment, but do not have common genes. A greater proportion of genetic determinants will manifest itself in a greater resemblance of the child to his biological parents. If environmental influences prevail, then, on the contrary, the child will be more like adoptive parents.
The purpose of the work: To study the influence of heredity and environment on the development of various traits in humans using the method of twin analysis.
Chapter 1 Literature Review
human genome
The international project "Human Genome" was launched in 1988. This is one of the most time-consuming and expensive projects in the history of science. If in 1990 about 60 million dollars were spent on it in general, then in 1998 the US government alone spent 253 million dollars, and private companies even more. Several thousand scientists from more than 20 countries are involved in the project. Since 1989, Russia has also been participating in it, where about 100 groups are working on the project. All human chromosomes are divided among the participating countries, and Russia got the 3rd, 13th and 19th chromosomes for research.
The main goal of the project is to find out the sequence of nucleotide bases in all human DNA molecules and to establish localization, i.e. complete mapping of all human genes. The project includes as subprojects the study of the genomes of dogs, cats, mice, butterflies, worms and microorganisms. It is expected that the researchers will then determine all the functions of the genes and develop ways to use the obtained data.
What is the main subject of the project - the human genome?
It is known that the nucleus of each somatic cell (in addition to the nucleus of DNA is also in the mitochondria) of a person contains 23 pairs of chromosomes, each chromosome is represented by one DNA molecule. The total length of all 46 DNA molecules in one cell is approximately 2 m, they contain about 3.2 billion base pairs. The total length of DNA in all cells of the human body (there are approximately 5x1013 of them) is 1011 km, which is almost a thousand times the distance from the Earth to the Sun.
How do such long molecules fit in the nucleus? It turns out that in the nucleus there is a mechanism of "forced" DNA folding in the form of chromatin - levels of compaction (Fig. 1).
Figure 1. Levels of chromatin packaging
The first level involves the organization of DNA with histone proteins - the formation of nucleosomes. Two molecules of special nucleosomal proteins form an octamer in the form of a coil around which the DNA strand is wound. One nucleosome contains about 200 base pairs. A fragment of DNA up to 60 base pairs in size, called a linker, remains between the nucleosomes. This level of folding makes it possible to reduce the linear dimensions of DNA by a factor of 6–7.
At the next level, nucleosomes are packed into a fibril (solenoid). Each turn is 6-7 nucleosomes, while the linear dimensions of DNA are reduced to 1 mm, i.e. 25-30 times.
The third level of compactization is the looping of fibrils, i.e., the formation of looped domains that diverge at an angle from the main axis of the chromosome. They can be seen under a light microscope as interphase lampbrush chromosomes. The transverse striation characteristic of mitotic chromosomes reflects, to some extent, the order in which genes are arranged in the DNA molecule.
If in prokaryotes the linear dimensions of the gene are consistent with the dimensions of the structural protein, then in eukaryotes the dimensions of DNA are much greater than the total dimensions of significant genes. This is explained, firstly, by the mosaic, or exon-intron, structure of the gene: fragments subject to transcription - exons, are interspersed with insignificant sections - introns. The sequence of genes is first completely transcribed by the synthesized RNA molecule, from which introns are then cut out, exons are fused, and in this form information from the mRNA molecule is read on the ribosome. The second reason for the colossal size of DNA is the large number of repetitive genes. Some repeat tens or hundreds of times, and there are those that have up to 1 million repeats per genome. For example, the gene encoding rRNA is repeated about 2 thousand times.
Back in 1996, it was believed that a person has about 100 thousand genes, now bioinformatics experts suggest that there are no more than 60 thousand genes in the human genome, and they account for only 3% of the total length of cell DNA, and the functional role of the rest 97% not installed yet.
What are the achievements of scientists in over ten years of work on the project?
The first major success was the complete mapping in 1995 of the genome of the bacterium Haemophilus influenzae. Later, the genomes of more than 20 bacteria were fully described, including the causative agents of tuberculosis, typhus, syphilis, etc. In 1996, the DNA of the first eukaryotic cell, yeast, was mapped, and in 1998, the genome of a multicellular organism, the roundworm Caenorhabolitis elegans, was mapped for the first time. . By 1998, the sequences of nucleotides in 30,261 human genes had been established; about half of the human genetic information has been deciphered.
The obtained data made it possible for the first time to really evaluate the functions of genes in the human body (Fig. 2).
Figure 2. Approximate distribution of human genes according to their functions
1 - production of cellular materials; 2 - energy production and use; 3 - communications inside and outside cells; 4 - protection of cells from infections and damage; 5 - cell structures and movement; 6 - reproduction of cells; 7 - functions not clear
Table 1 shows the known data on the number of genes involved in the development and functioning of some human organs and tissues.
Table 1
Name of organ, tissue, cell Number of genes
1. Salivary gland17
2. Thyroid gland 584
3. Smooth muscles 127
4. Mammary gland 696
5. Pancreas1094
6. Spleen1094
7. Gallbladder 788
8. Small intestine 297
9. Placenta1290
10. Skeletal muscle 735
11. White blood cell 2164
12. Testis 370
13. Leather 620
14. Brain 3195
15. Eye 547
16. Lungs 1887
17. Heart 1195
18. Erythrocyte 8
19. Liver 2091
20. Uterus 1859
In recent years, international databases have been created on the nucleotide sequences in the DNA of various organisms and on the amino acid sequences in proteins. In 1996, the International Society for Sequencing decided that any newly determined nucleotide sequence of 1-2 thousand bases or more should be made public via the Internet within a day after its decoding, otherwise articles with these data in scientific journals will not accepted. Any specialist in the world can use this information.
During the implementation of the Human Genome Project, many new research methods have been developed, most of which have recently been automated, which significantly speeds up and reduces the cost of DNA decoding. The same methods of analysis can be used for other purposes: in medicine, pharmacology, forensics, etc.
Let us dwell on some specific achievements of the project, first of all, of course, related to medicine and pharmacology.
Every hundredth child in the world is born with some kind of hereditary defect. To date, about 10 thousand different human diseases are known, of which more than 3 thousand are hereditary. Mutations have already been identified that are responsible for diseases such as hypertension, diabetes, certain types of blindness and deafness, and malignant tumors. Genes responsible for one of the forms of epilepsy, gigantism, etc. have been found. Table 2 lists some diseases resulting from damage to genes, the structure of which was completely deciphered by 1997.
table 2
Disease name
1. Chronic granulomatosis
2. Cystic fibrosis
3. Wilson's disease
4. Early breast/ovarian cancer
5. Emery-Dreyfus muscular dystrophy
6. Atrophy of the muscles of the spine
7. Albinism of the eye
8. Alzheimer's disease
9. Hereditary paralysis
10. Dystonia
It is likely that in the coming years it will become possible to diagnose serious diseases very early, and hence more successful in the fight against them. Currently, methods are being actively developed for targeted drug delivery to affected cells, replacing diseased genes with healthy ones, turning on and off lateral metabolic pathways by turning on and off the corresponding genes. Examples of successful application of gene therapy are already known. So, for example, it was possible to achieve a significant improvement in the condition of a child suffering from severe congenital immunodeficiency by introducing him with normal copies of the damaged gene.
In addition to disease-causing genes, some more genes have been found that are directly related to human health. It turned out that there are genes that determine the predisposition to the development of occupational diseases in hazardous industries. So, in asbestos industries, some people get sick and die from asbestosis, while others are resistant to it. In the future, it is possible to create a special genetic service that will give recommendations on possible professional activities in terms of predisposition to occupational diseases.
It turned out that the predisposition to alcoholism or drug addiction can also have a genetic basis. Seven genes have already been discovered, the damage of which is associated with the emergence of dependence on chemicals. A mutant gene has been isolated from the tissues of patients with alcoholism, which leads to defects in cellular dopamine receptors, a substance that plays a key role in the work of the pleasure centers of the brain. A lack of dopamine or defects in its receptors are directly related to the development of alcoholism. In the fourth chromosome, a gene was found whose mutations lead to the development of early alcoholism and already in early childhood manifest themselves in the form of increased mobility of the child and attention deficit.
Interestingly, gene mutations do not always lead to negative consequences - they can sometimes be beneficial. Thus, it is known that in Uganda and Tanzania, AIDS infection among prostitutes reaches 60-80%, but some of them not only do not die, but also give birth to healthy children. Apparently, there is a mutation (or mutations) that protects a person from AIDS. People with this mutation can be infected with the immunodeficiency virus but do not develop AIDS. A map has now been created that roughly reflects the distribution of this mutation in Europe. Especially often (in 15% of the population) it occurs among the Finno-Ugric group of the population. The identification of such a mutant gene could lead to a reliable way to fight one of the most terrible diseases of our century.
It also turned out that different alleles of the same gene can cause different reactions of people to drugs. Pharmaceutical companies plan to use this data to produce specific drugs for different patient groups. This will help to eliminate adverse reactions from drugs, more precisely, to understand the mechanism of their action, to reduce millions of costs. A whole new branch of pharmacogenetics is the study of how certain features of the structure of DNA can weaken or enhance the effect of drugs.
Deciphering the genomes of bacteria makes it possible to create new effective and harmless vaccines and high-quality diagnostic preparations.
Of course, the achievements of the Human Genome Project can be applied not only in medicine or pharmaceuticals.
DNA sequences can be used to establish the degree of relationship between people, and mitochondrial DNA can accurately determine maternal kinship. A method of "genetic fingerprinting" has been developed, which makes it possible to identify a person by trace amounts of blood, skin flakes, etc. This method has been successfully used in forensics - thousands of people have already been acquitted or convicted on the basis of genetic analysis. Similar approaches can be used in anthropology, paleontology, ethnography, archeology, and even in such a seemingly distant field from biology as comparative linguistics.
As a result of the research, it became possible to compare the genomes of bacteria and various eukaryotic organisms. It turned out that in the process of evolutionary development in organisms, the number of introns increases, i.e. evolution is associated with the "dilution" of the genome: per unit length of DNA there is less and less information about the structure of proteins and RNA (exons) and more and more areas that do not have a clear functional significance (introns). This is one of the great mysteries of evolution.
Previously, evolutionary scientists identified two branches in the evolution of cellular organisms: prokaryotes and eukaryotes. As a result of the comparison of genomes, archaebacteria, unique unicellular organisms that combine the features of prokaryotes and eukaryotes, had to be separated into a separate branch.
Currently, the problem of the dependence of a person's abilities and talents on his genes is also being intensively studied. The main task of future research is the study of single nucleotide DNA variations in cells of different organs and the identification of differences between people at the genetic level. This will make it possible to create genetic portraits of people and, as a result, treat diseases more effectively, assess the abilities and capabilities of each person, identify differences between populations, assess the degree of adaptation of a particular person to a particular environmental situation, etc.
Finally, it is necessary to mention the danger of disseminating genetic information about specific people. In this regard, laws have already been passed in some countries prohibiting the dissemination of such information, and lawyers around the world are working on this problem. In addition, the Human Genome Project is sometimes associated with the revival of eugenics at a new level, which also causes concern among specialists.
Human genome analysis completed.
On April 6, 2000, the Congressional Science Committee met in Washington, D.C., where Dr. J. Craig Venter announced that his company, Celera Genomics, had completed the sequencing of all necessary fragments of the human genome. He expects that the preliminary work to sequencing all the genes (there are about 80,000 of them, and they contain about 3 billion "letters" of DNA) will be completed in 3-6 weeks, i.e. much earlier than planned. Most likely, the final decoding of the human genome will be completed by 2003.
Celera joined the Human Genome Project 22 months ago. Its approaches were initially criticized by the so-called open consortium of project participants, but its fruit fly genome sequencing subproject, which it completed last month, has shown their effectiveness.
This time, no one criticized the forecasts of K. Venter, made by him in the presence of US presidential adviser for science, Dr. N. Lane, and a representative of the consortium, the largest specialist in genome sequencing, Dr. Robert Waterston.
The preliminary map of the genome will contain about 90% of all genes, but, nevertheless, it will be of great help to the work of scientists and doctors, since it will allow them to quite accurately find the necessary genes. Dr. Venter said he now intends to use his 300 sequencers to analyze the mouse genome, which will help him understand how human genes work.
The decoded genome belongs to a man, therefore it contains both X- and Y-chromosomes. The name of this person is not known, and it does not matter, because. extensive data on individual DNA variability has been and continues to be collected by both Celera and a consortium of researchers. Incidentally, the consortium uses genetic material obtained from various people in its research. Dr. Venter described the results of the consortium as 500,000 deciphered, but not ordered fragments, from which it would be very difficult to compose whole genes.
Dr. Venter said that once the structure of the genes has been determined, he will host a conference to bring outside experts into positioning the genes in the DNA molecules and determining their functions. After that, other researchers will have free access to data on the human genome.
Negotiations were underway between Venter and a consortium of researchers to jointly publish the results, and one of the main points of the agreement was to provide that genes could be patented only after their functions and position in DNA were accurately determined.
However, negotiations were interrupted due to disagreements over what counts as the completion of genome sequencing. The problem is that in eukaryotic DNA, unlike prokaryotic DNA, there are fragments that cannot be deciphered by modern methods. These fragments can range in size from 50 to 150 kb, but fortunately these fragments contain very few genes. At the same time, there are fragments in DNA regions rich in genes that also cannot be deciphered yet.
Determination of the position and functions of genes is supposed to be carried out with the help of special computer programs. These programs will analyze the structure of genes and, comparing it with data on the genomes of other organisms, offer options for their possible functions. According to Celera, the work can be considered completed if the genes are almost completely determined and it is known exactly how the decoded fragments are located on the DNA molecule, i.e. in what order. This definition is satisfied by the results of Celera, while the results of the consortium do not allow one to unambiguously determine the position of the deciphered sections relative to each other.
Celera intends to make the data available to other researchers by subscription after compiling a complete map of the human genome, while for universities the fee for using the data bank will be very low, 5-15 thousand dollars a year. This will seriously compete with the Genbank database owned by universities.
At the Science Committee meeting, companies such as Incyte Pharmaceuticals and Human Genome Sciences were scathingly critical of copying the consortium's Internet data nightly and then filing for patents on all the genes they found in those sequences.
When asked whether data on the human genome could be used to create a new type of biological weapon, for example, dangerous only for certain populations, Dr. Venter replied that data on the genomes of pathogenic bacteria and viruses pose a much greater danger. When asked by one of the congressmen whether targeted change in the human race would now become a reality, Dr. Venter replied that it could take about a hundred years to fully determine the functions of all genes, and until then there is no need to talk about directed changes in the genome.
Recall that in December 1999, researchers from Great Britain and Japan announced the establishment of the structure of the 22nd chromosome. It was the first human chromosome to be decoded. It contains 33 million base pairs, and 11 sections (about 3% of the DNA length) remained undeciphered in its structure. The functions of about half of the genes have been determined for this chromosome. It has been established, for example, that 27 different diseases are associated with defects in this chromosome, including such as schizophrenia, myeloid leukemia and trisomy 22 - the second most important cause of miscarriages in pregnant women.
At the time, British scientists were highly critical of Celera's sequencing methods, believing that they would take too long to decipher the sequences and determine the relative position of their fragments. Then, based on the known amount of decoded material, predictions were made that the next to be mapped would be the 7th, 20th, and 21st chromosomes.
A week after the announcement of the completion of the decoding of the nucleotide sequences in the human genome, a meeting of the American Association for the Advancement of Science was held, at which US Secretary of Energy Bill Richardson announced that scientists from the Joint Genome Institute had determined the structures of the 5th, 16th, and 19th human chromosomes .
These chromosomes contain approximately 300 million base pairs, which is 10-15 thousand genes, or about 11% of the human genetic material. So far, 90% of the DNA of these chromosomes has been mapped - there are areas that cannot be deciphered, containing a small number of genes.
Genetic defects have been found on chromosome maps that can lead to certain kidney diseases, prostate and rectal cancer, leukemia, hypertension, diabetes, and atherosclerosis.
According to Richardson, closer to the summer, information on the structure of chromosomes will be available to all researchers free of charge.
Genetics and the problem of cancer
Achievements in genetics and molecular biology in recent decades have had a huge impact on understanding the nature of the initialization and progression of malignant tumors. It has been finally established that cancer is a heterogeneous group of diseases, each of which is caused by a complex of genetic disorders that determine the property of uncontrolled growth and the ability to metastasize. This modern knowledge has opened fundamentally new possibilities in the diagnosis and treatment of malignant neoplasms.
The influence of specific genetic disorders underlying tumor growth made it possible to detect specific molecular markers and develop tests for early tumor diagnosis based on them.
It is known that neoplastic cell transformation occurs as a result of the accumulation of inherited (germinal) and acquired (somatic) mutations in proto-oncogenes or suppressor genes. It is these genetic disorders that can first of all be used to detect malignant cells in clinical material.
The most suitable substrate for molecular diagnostics is DNA, because it is stored for a long time in tissue samples and can be easily propagated using the so-called. polymerase chain reaction (PCR). This allows diagnostics to be carried out even in the presence of a minimum amount of the test material.
In addition to determining mutations in oncogenes and suppressor genes, for diagnostic purposes, changes are used that are detected in repetitive DNA sequences, the so-called. micro satellites.
When comparing paired samples of tumor and normal tissues, the loss of one of the alleles in the tumor (loss of heterozygosity (LH)) can be detected, which reflects the presence of chromosomal deletions underlying the inactivation of suppressor genes.
Microsatellite instability (MN) is especially characteristic of the inherited form of non-polyposis colon cancer. However, it is found in many other types of tumors and manifests itself both in the inactivation of suppressor genes and in deletions of anonymous non-coding DNA sequences.
In general, the detection of PG and/or MN in clinical samples indicates the presence of cells carrying distorted information characteristic of tumor growth. Mutations in oncogenes and suppressor genes are also detected when using cellular RNA as a starting material, which is converted into a complementary (C)-DNA by reverse transcription and amplified by PCR. This method (RT-PCR) is widely used to detect gene expression in various tissues.
It is known that normal and tumor cells differ in the expression of many hundreds of genes; therefore, modern methods of serial expression analysis based on microarray technology have been developed and allow one to evaluate hundreds and even thousands of genes simultaneously.
One of the new promising molecular tumor markers is telisomerase, a ribonucleoprotein enzyme that increases nucleotide sequences at the ends of chromosomes (telomeres). The activity of this enzyme is constantly present in more than 90% of tumors and is practically not detected in normal tissues. Despite the undoubted promise and high accuracy of molecular diagnostic methods, the question of their specificity and sensitivity remains relevant. This is due to the fact that tumors always consist of a mixture of normal and malignant cells, so the DNA isolated from them is also heterogeneous, which must be taken into account when deciding on the applicability of molecular tests.
However, PCR-based techniques are technologically extremely sensitive and able to detect specific genetic disorders long before the formation of a morphologically detectable tumor.
At present, several areas of use of molecular tests in oncology have been formed.
1) Early detection of tumors is most often based on the detection of ras and p53 mutations, the detection of which in some cases makes it possible to judge the stage of the tumor process. Mutations of the APC gene, found in more than 70% of adenomas, serve as an informative early marker of colon cancer. Microsatellite markers are highly effective in the early detection of bladder and prostate cancer. A wide variety of tumors can be diagnosed using telisomerase activity protocols.
2) Metastasis and spread of the tumor can also be assessed using molecular tests. Most often, RT-PCR is used for these purposes to detect changes in gene expression in tumor cells.
3) The analysis of cytological and histological preparations with the help of molecular tests is increasingly being used. An example is the determination of HPV viruses in cervical cancer, as well as the use of molecular tests to detect mutations in oncogenes directly on histological sections.
4) Intermediate biomarkers are used to detect clonal and genetic changes that can predict the appearance of tumors. These markers are successfully used to assess the effectiveness of oncoprotectors at the population level.
5) Genetic testing of cancer risk has become possible due to the discovery of cancer predisposition genes, which turned out to be especially relevant for risk assessment among members of the so-called "highly cancerous" families.
DNA testing has been successfully used in various inherited tumors: retinoblastoma, intestinal polyposis, multiple endocrine tumors of the second type (MEN2).
One of the significant problems that arise in the diagnosis of family predisposition to breast cancer concerns the social and psychological consequences of identifying these mutations in patients.
However, with the proper organization of genetic counseling and compliance with ethical standards and the principle of confidentiality, the use of molecular tests in risk groups is certainly useful and necessary.
In conclusion, it should be emphasized that the introduction of modern methods of molecular diagnostics into widespread oncological practice will inevitably require a serious technical re-equipment of existing clinical laboratories, as well as specially trained personnel. The diagnostic methods themselves must undergo large-scale clinical trials, taking into account the principles of randomization.
Influence of heredity on aggressiveness and crime
Data on the influence of heredity on aggressiveness were obtained in a study of one Dutch family, in three generations of which 14 men (uncles, brothers, nephews) showed behavioral disorders (arson attempts, exhibitionism, etc.), impulsive aggressiveness and mental retardation. The study began with the fact that one of the women of this family sought medical advice, as she feared for the health of her unborn children.
The study of the pedigree showed that this is not just a bad character, but a disease associated with the X chromosome: it was transmitted through women who were quite healthy at the same time, and manifested itself only in men.
DNA was isolated from the blood of members of the family under study and it was determined that all patients have a common section of the X chromosome, in which the gene for monoamine oxidase A, one of the enzymes that destroy monoamines (serotin, dopamine, norepinephrine, etc.), is located. All examined male patients from this family had a point mutation in the monoamine oxidase A gene. As a result of the mutation, the CAG codon encoding the amino acid glutamine turned into the TAG codon, a signal to stop protein synthesis. Due to the absence of monoamine oxidase, the content of dopamine and serotonin in patients was significantly higher than normal. In healthy men, this mutation was absent, and in women carrying a mutation in the X chromosome, the second chromosome was normal and provided for the synthesis of monoamine oxidase.
When the same mutation was introduced into the monoamine oxidase A gene of mice, they turned into reckless killers, attacking other mice for no reason. However, the author of the study, Dutch geneticist Hans Brunner, does not believe that he discovered the "aggressiveness gene". After all, even in the same family, among men with the same mutation, the degree of aggressiveness and the range of behavioral disorders varied significantly. Behavior is too complex a system to think that any of its forms are determined by one particular gene.
Resistance to alcohol, nicotine, drugs
The genes that determine addiction to alcohol or smoking have not yet been found. However, people differ in their resistance to these substances, and some molecular mechanisms for the formation of dependence or resistance are known.
Resistance to alcohol is associated with the activity of the enzymes alcohol dehydrogenase and acetaldehyde dehydrogenase. The activity of these enzymes varies from person to person, which causes them to be more or less resistant to alcohol. The participation of dopamine and serotonin systems in the formation of dependence on alcohol was revealed. There are three known mechanisms for the formation of addiction to nicotine. Nicotine reaches the brain and binds to a protein called the neuronal nicotinic acetylcholine receptor, which is involved in learning and memory formation. Normally, this protein is activated by acetylcholine, a natural neurotransmitter, but for an unknown reason, it also reacts to the plant poison, nicotine. When nicotine acts on this receptor, short-term memory improves and concentration of attention is facilitated. Another mechanism of brain stimulation by nicotine is the release of dopamine, the same one through which the drugs cocaine, amphetamine and morphine act. In addition, cigarette smoke contains a substance that inhibits monoamine oxidase. In smokers, its content is 40% below the norm. This leads to an increase in the action of monoamines: dopamine, serotine, norepinerin. Monoamine oxidase inhibitors are used as antidepressants. In other words, smoking can make people less depressed. Smoking makes a person feel smarter, better, happier. Not surprisingly, people do not stop smoking, despite the deterioration of health.
It has been found that there are various genes that influence the formation of dependence on nicotine, and genes that increase resistance to smoking. Although 80% of smokers try to kick the habit, only 70% succeed (the same rate with heroin). However, even if the attempt to quit smoking failed, and the break was several days, these were the days when the smoker did not destroy his health.
The influence of heredity on intelligence
According to various estimates, from 5 to 20-30% of children have learning difficulties or are unable to master the school curriculum. The most common reading disability is dyslexia.
It is understandable when a child with mental retardation cannot learn to read. But there are children who, at a normal level of mental development, are not able to learn the rules that connect written words and their colloquial counterparts, they poorly distinguish between alphabetic and non-alphabetic characters.
To determine whether the genes are “to blame” for this, a study of twins helped. In the case of monozygotic twins, both children suffer from dyslexia in 84%, for dizygotic twins, the coincidence does not exceed 30%. Therefore, the disorder is hereditary. To date, sites associated with dyslexia have been found on three chromosomes. Mutations in an as yet unknown gene on chromosome 6 affect phonological and spelling skills. Reading individual words is associated with one of the sections of chromosome 15. Another gene is located on chromosome 2. Of course, such complex skills as reading or counting cannot be determined by one particular gene, but mutations in these genes affect various parts of the learning process.
Interesting results have been obtained in mice. Mutants for the gene for the glutamate receptor, which is also a neurotransmitter, had a reduced ability to remember the location of objects, despite the fact that their other abilities were not impaired.
Further research into the genes that determine mental ability allows early diagnosis of mental ability disorders and the use of special educational programs for those children who need it, rather than waiting for the child to hopelessly fall behind his peers and develop secondary emotional and behavioral problems.
Practical work
To study human heredity and the influence of environmental conditions on the formation of human traits, I conducted individual testing between monozygotic twins. Testing was conducted between fifth grade students Dinara Imamova and Ilnara Imamova, as well as between sixth grade students Ziyaltdinova Gulnaz and Ziyaltdinova Laysan. Testing was carried out to determine the level of mental development of children of primary school age, the state of indirect memory and the formation of personal characteristics.
Test 1. Diagnostics of indirect memory
The following words and expressions are read to the child one by one:
House. Stick. Wood. Jump high. The sun is shining. Cheerful person. Children play ball. The boat floats on the river. The cat eats the fish.
After reading each word or phrase to the child, the experimenter pauses for 20 seconds. At this time, the child should have time to draw on the sheet of paper given to him something that will later allow him to remember the necessary words and expressions. If in the allotted time the child did not have time to make a note or drawing, then the experimenter interrupts it and reads out the next word or expression.
As soon as the experiment is over, the experimenter asks the child, using the drawings or notes made by him, to recall the words and expressions that were read to him.
Evaluation of results
For each correctly reproduced word or phrase, the child receives 1 point. Approximately correct reproduction is estimated at 0.5 points, and incorrect - at 0 points.
The maximum overall score that a child can receive in this technique is 10 points. The child will receive such an assessment when he correctly remembers all the words and expressions without exception. The minimum possible score is 0 points. It corresponds to the case if the child could not remember a single word from his drawings and notes or did not make a drawing or a note for a single word.
10 points - very highly developed indirect auditory memory.
8-9 points - highly developed indirect auditory memory.
4-7 points - moderately developed indirect auditory memory.
2-3 points - poorly developed indirect auditory memory.
0-1 point - poorly developed indirect auditory memory.
| Z. Leysan | Z. Gulnaz | Correct answer | I. Ilnara | I. Dinara |
| 1 b. | 1 b. | House | 1 b. | 1 b. |
| 1 b. | 1 b. | Stick | 1 b. | 1 b. |
| 1 b. | 1 b. | Wood | 1 b. | 1 b. |
| 1 b. | 0.5 b. | jump high | 1 b. | 1 b. |
| 1 b. | 1 b. | The sun is shining | 1 b. | 1 b. |
| 1 b. | 1 b. | Cheerful man | 1 b. | 1 b. |
| 1 b. | 0.5 b. | Children playing ball | 0.5 b. | 0.5 b. |
| 0.5 b. | 1 b. | The clock is standing | 0 b. | 0 b. |
| 1 b. | 1 b. | The boat floats on the river | 1 b. | 0.5 b. |
| 1 b. | 1 b. | cat eats fish | 1 b. | 1 b. |
| 9.5 b. | 9 b. | Outcome | 8.5 b. | 8 b. |
Conclusion: The indirect memory of the first pair in Z. Laysan is 9.5; Z. Gulnaz has 9 points and the second pair of twins has 8.5 and 8 points. In most cases, the answers of the twins are the same, both pairs of twins have a highly developed indirect memory.
Test 2. Methods for determining the level of mental development of children
I. It is necessary to choose one of the words enclosed in brackets that correctly completes the begun sentence.
a) The boot has ... (lace, buckle, sole, straps, button).
b) Lives in warm lands ... (bear, deer, wolf, camel, seal).
c) In the year ... (24; 3; 12; 4; 7) months.
d) The month of winter ... (September, October, February, November, March).
e) The largest bird ... (crow, ostrich, falcon, sparrow, eagle, owl).
f) Roses are ... (fruits, vegetables, flowers, trees).
g) The owl always sleeps ... (at night, in the morning, in the afternoon, in the evening).
h) Water is always ... (clear, cold, liquid, white, tasty).
i) A tree always has ... (leaves, flowers, fruits, root, shadow).
j) City of Russia ... (Paris, Moscow, London, Warsaw, Sofia).
II. Each line contains five words, four of which can be combined into one group and given a name, and one word does not belong to this group. This "extra" word must be found and eliminated.
a) Tulip, lily, bean, chamomile, violet.
b) River, lake, sea, leaf, swamp.
c) Doll, teddy bear, sand, ball, shovel.
d) Kyiv, Kharkov, Moscow, Donetsk, Odessa.
e) Poplar, birch, hazel, linden, aspen.
f) Circle, triangle, quadrilateral, pointer, square.
g) Ivan, Peter, Nesterov, Makar, Andrey.
h) Chicken, rooster, swan, goose, turkey.
i) Cheerful, fast, sad, tasty, cautious.
Evaluation and interpretation of results
If the answer to the first task is correct, you need to prove your idea. If the answer is correct, the answer is estimated at 1 point, if it is incorrect - 0.5 points. If the answer was wrong, it is worth 0 points.
When processing the results of the study, for each child, the sum of the points received for the performance of individual subtests and the total score for the two subtexts as a whole are calculated. The maximum number of points that a subject can score for solving two subtexts is 20 (100% success rate).
The assessment of success (OS) of solving verbal subtexts is determined by the formula
where X is the sum of points received by the subjects.
Level 4: 800-100% OS;
Level 3: 79-65% OS;
Level 2: 64-50% OS;
Level 1: 49% and below.
| Z. Leysan | Z. Gulnaz | Correct answer | I. Dinara | I. Ilnara |
| 0 b. | 0 b. | Sole | 1 b. | 1 b. |
| 1 b. | 1 b. | Camel | 1 b. | 1 b. |
| 1 b. | 1 b. | 12 | 1 b. | 1 b. |
| 1 b. | 1 b. | February | 0 b. | 0 b. |
| 1 b. | 1 b. | Ostrich | 1 b. | 1 b. |
| 1 b. | 1 b. | Flowers | 0 b. | 0 b. |
| 0 b. | 0 b. | Day | 1 b. | 1 b. |
| 1 b. | 0 b. | Liquid | 0 b. | 0 b. |
| 1 b. | 1 b. | Root | 0 b. | 0 b. |
| 1 b. | 0 b. | Moscow | 1 b. | 1 b. |
| Z. Leysan | Z. Gulnaz | Correct answer | I. Dinara | I. Ilnara |
| 1 b. | 1 b. | Beans | 1 b. | 1 b. |
| 1 b. | 1 b. | Bridge | 1 b. | 1 b. |
| 0 b. | 0 b. | Sand | 0 b. | 1 b. |
| 0 b. | 0 b. | Moscow | 0 b. | 0 b. |
| 1 b. | 1 b. | Hazel | 0 b. | 1 b. |
| 1 b. | 1 b. | Pointer | 1 b. | 1 b. |
| 1 b. | 1 b. | Nesterov | 1 b. | 1 b. |
| 1 b. | 1 b. | Swan | 1 b. | 1 b. |
| 1 b. | 1 b. | Number | 1 b. | 1 b. |
| 1 b. | 1 b. | Delicious | 1 b. | 1 b. |
Conclusion: In the first pair of twins, Ziyaltdinova Leysan scored 16 points, and Ziyaltdinova Gulnaz - 13 points. Therefore, Leysan's success score is:
Gulnaz's success score is:
So, the success rates of the first pair are high - 80% and 70%, which correspond to the 4th and 3rd levels of the OU.
In the second pair of twins, Dinara Imamova scored 12 points, and Ilnara Imamova - 15 points. Dinara's success score is:
Ilnara's success score is:
gene inheritance twin
The success rates for the second pair of twins are 60% and 75%, which corresponds to levels 3 and 2 of OS.
Test 3. The study of personality traits of younger students.
This test was developed by R.B. Cattal and R.V. Koan. It contains 12 scales for measuring the severity of personality traits, the functionally independent nature of which has been established in a number of factor-analytical studies. Below is a brief interpretation of each of the 12 scales of the questionnaire.
1. Factor A (coldness - goodwill). High scores indicate open, sociable behavior, low scores indicate isolation, coldness.
2. Factor C (emotional instability - stability). High scores indicate calmness, poise, rationality of behavior, low scores indicate capriciousness, inconstancy, avoidance of difficulties, changeability in relationships and interests.
3. Factor D (poise - excitability). Schoolgirls who have received high marks are easy to get out of working condition, they are offended by remarks, they react violently to failures. Low scores characterize emotional serenity and calmness.
4. Factor E (submission - independence). A child who has received a high score on the scale is active, active, unstable and stubborn, with a low score - more obedient.
5. Factor F (concern - carelessness). A high score on the scale characterizes optimism, liveliness, self-confidence, while a low score characterizes prudence, caution and courtesy.
6. Factor G (Low - high conscientiousness). The scale measures the extent to which the child is included in the value system characteristic of the adult world.
7. Factor H (timidity courage). Like the A factor, the H factor measures how communicative a child is. However, if a schoolgirl with a high score on factor A is sociable because she likes to be among people, then a schoolgirl with a high score on the H scale is sociable because she easily and boldly interacts with people. A child with a low score experiences a feeling of awkwardness and insecurity, avoids communication, crowds of people.
8. Factor I (hardness - kindness). High scores indicate refinement, romance, rich imagination, low scores indicate firmness, severity and masculinity.
9. Factor Q3 (energy - restraint). Children with a high score on the scale tend to keep apart, are more critical and demanding of others, while children with a low score are more free to express their feelings, willingly act in accordance with group interests.
10. Factor N (naivete - cunning). Schoolgirls with a high score can be characterized as socially dexterous and prudent, with a low score - more naive, sentimental and gullible.
11. Factor O (self-confidence - depression). High scores on factor O may be the result of neurosis, depression, or mental trauma.
12. Factor Q4 (relaxation - tension). A high score indicates agitation, fussiness, unmotivated anxiety. Low - about calmness, lethargy, complete self-satisfaction.
Answers Ziyaltdinova Laysan
| 1 | + | - | 16 | + | - | 31 | + | - | 46 | - | + |
| 2 | - | + | 17 | - | + | 32 | - | + | 47 | - | + |
| 3 | + | - | 18 | - | + | 33 | + | - | 48 | + | - |
| 4 | - | + | 19 | - | + | 34 | + | - | 49 | - | + |
| 5 | + | - | 20 | - | + | 35 | + | - | 50 | + | - |
| 6 | - | + | 21 | + | - | 36 | + | - | 51 | - | + |
| 7 | + | - | 22 | - | + | 37 | - | + | 52 | + | - |
| 8 | + | - | 23 | + | - | 38 | + | - | 53 | + | - |
| 9 | - | + | 24 | - | + | 39 | + | - | 54 | - | + |
| 10 | - | + | 25 | - | + | 40 | + | - | 55 | + | - |
| 11 | + | - | 26 | + | - | 41 | + | - | 56 | - | + |
| 12 | + | - | 27 | - | - | 42 | - | + | 57 | - | + |
| 13 | + | - | 28 | - | + | 43 | + | - | 58 | - | + |
| 14 | - | + | 29 | - | + | 44 | + | - | 59 | + | - |
| 15 | - | - | 30 | - | + | 45 | + | - | 60 | + | - |
Answers Ziyaltdinova Gulnaz
| 1 | + | - | 16 | + | - | 31 | + | - | 46 | - | + |
| 2 | - | + | 17 | - | + | 32 | - | + | 47 | - | + |
| 3 | - | + | 18 | - | + | 33 | - | + | 48 | + | - |
| 4 | - | + | 19 | - | + | 34 | + | - | 49 | - | + |
| 5 | + | - | 20 | + | - | 35 | + | - | 50 | - | + |
| 6 | - | + | 21 | + | - | 36 | + | - | 51 | - | + |
| 7 | + | - | 22 | - | + | 37 | - | + | 52 | + | - |
| 8 | + | - | 23 | + | - | 38 | + | - | 53 | - | + |
| 9 | - | + | 24 | - | + | 39 | + | - | 54 | - | + |
| 10 | - | + | 25 | - | + | 40 | + | - | 55 | - | + |
| 11 | + | - | 26 | + | - | 41 | + | - | 56 | - | + |
| 12 | + | - | 27 | - | - | 42 | - | + | 57 | - | + |
| 13 | + | - | 28 | - | + | 43 | + | - | 58 | - | + |
| 14 | - | + | 29 | - | + | 44 | + | - | 59 | + | - |
| 15 | - | - | 30 | - | + | 45 | + | - | 60 | + | - |
Imamova Ilnara's answers
| 1 | - | + | 16 | - | + | 31 | - | + | 46 | - | + |
| 2 | + | - | 17 | + | - | 32 | - | + | 47 | - | + |
| 3 | - | + | 18 | + | - | 33 | + | - | 48 | - | + |
| 4 | - | + | 19 | - | - | 34 | - | + | 49 | + | - |
| 5 | - | + | 20 | - | + | 35 | - | + | 50 | - | + |
| 6 | - | + | 21 | + | - | 36 | + | - | 51 | + | - |
| 7 | + | - | 22 | + | - | 37 | + | - | 52 | - | + |
| 8 | + | - | 23 | + | - | 38 | - | + | 53 | + | - |
| 9 | + | - | 24 | + | - | 39 | + | - | 54 | - | + |
| 10 | - | + | 25 | - | + | 40 | - | + | 55 | + | - |
| 11 | - | + | 26 | + | - | 41 | - | + | 56 | - | + |
| 12 | + | - | 27 | - | - | 42 | - | + | 57 | + | - |
| 13 | - | + | 28 | - | + | 43 | - | + | 58 | - | + |
| 14 | - | + | 29 | - | + | 44 | - | + | 59 | - | + |
| 15 | - | + | 30 | + | - | 45 | - | + | 60 | + | - |
Imamova Dinara's answers
| 1 | - | + | 16 | - | + | 31 | - | + | 46 | - | + |
| 2 | + | - | 17 | + | - | 32 | - | + | 47 | - | |
| 3 | - | + | 18 | + | - | 33 | + | - | 48 | - | |
| 4 | - | + | 19 | - | - | 34 | + | - | 49 | - | |
| 5 | - | + | 20 | - | + | 35 | - | + | 50 | + | |
| 6 | - | + | 21 | + | - | 36 | + | - | 51 | + | |
| 7 | + | - | 22 | + | - | 37 | + | - | 52 | - | |
| 8 | - | + | 23 | + | - | 38 | - | + | 53 | + | |
| 9 | + | - | 24 | + | - | 39 | + | - | 54 | - | |
| 10 | - | + | 25 | + | - | 40 | - | + | 55 | + | |
| 11 | - | - | 26 | + | - | 41 | - | + | 56 | - | |
| 12 | + | - | 27 | - | - | 42 | - | + | 57 | + | |
| 13 | - | + | 28 | - | + | 43 | - | + | 58 | - | |
| 14 | - | + | 29 | - | + | 44 | - | + | 59 | - | |
| 15 | - | - | 30 | - | + | 45 | - | + | 60 | + |
Conclusion: Using the key to the Cattel questionnaire, we compare the results of the survey between twin sisters.
Key to the questionnaire
| 1 | + | - | A | 16 | - | + | D | 31 | + | - | G | 46 | + | - | O |
| 2 | - | + | A | 17 | + | - | E | 32 | + | + | H | 47 | - | + | G |
| 3 | + | - | C | 18 | + | - | F | 33 | - | + | I | 48 | + | - | H |
| 4 | - | + | C | 19 | - | + | N | 34 | + | - | O | 49 | + | - | I |
| 5 | + | - | A | 20 | + | - | D | 35 | + | - | G | 50 | - | + | O |
| 6 | - | + | C | 21 | - | + | E | 36 | + | - | H | 51 | - | + | Q4 |
| 7 | + | - | A | 22 | - | + | F | 37 | - | + | I | 52 | + | - | Q4 |
| 8 | + | - | C | 23 | + | - | N | 38 | + | - | O | 53 | - | + | Q4 |
| 9 | - | + | A | 24 | - | + | D | 39 | + | - | G | 54 | + | - | Q4 |
| 10 | + | - | C | 25 | + | + | E | 40 | - | + | H | 55 | - | + | Q3 |
| 11 | + | - | N | 26 | - | + | F | 41 | + | - | I | 56 | + | - | Q4 |
| 12 | - | + | D | 27 | - | - | N | 42 | - | + | O | 57 | + | - | Q3 |
| 13 | + | - | E | 28 | + | - | D | 43 | - | + | G | 58 | + | - | Q4 |
| 14 | - | + | F | 29 | + | - | E | 44 | + | - | H | 59 | - | + | Q3 |
| 15 | - | - | N | 30 | + | - | F | 45 | + | - | I | 60 | - | + | Q4 |
For a more convenient comparison, let's make a table:
| Z. Laysan | Z. Gulnaz | Factors | I. Dinara | I. Ilnara |
| 5 factors out of 5 | 5 factors out of 5 | A | 1 factor out of 5 | 1 factor out of 5 |
| 3 factors out of 5 | 3 factors out of 5 | C | 2 factors out of 5 | 2 factors out of 5 |
| 2 factors out of 5 | 2 factors out of 5 | D | 1 factor out of 5 | 1 factor out of 5 |
| 2 factors out of 5 | 2 factors out of 5 | E | 1 factor out of 5 | 2 factors out of 5 |
| 2 factors out of 5 | 2 factors out of 5 | F | 1 factor out of 5 | 3 factors out of 5 |
| 4 factors out of 5 | 4 factors out of 5 | G | 3 factors out of 5 | 3 factors out of 5 |
| 4 factors out of 5 | 4 factors out of 5 | H | 3 factors out of 5 | 3 factors out of 5 |
| 2 factors out of 5 | 4 factors out of 5 | I | - | 1 factor out of 5 |
| 1 factor out of 5 | 3 factors out of 5 | Q3 | 1 factor out of 5 | 2 factors out of 5 |
| 5 factors out of 5 | 5 factors out of 5 | N | 1 factor out of 5 | 3 factors out of 5 |
| 2 factors out of 5 | 4 factors out of 5 | O | 2 factors out of 5 | 2 factors out of 5 |
| - | 1 factor out of 5 | Q4 | - | 1 factor out of 5 |
Conclusion: Based on the results of the survey, it is possible to characterize the nature of each pair of twins. According to the questionnaire of Kettel Ziyaltdinov, Laysan: sociable, balanced, emotionally serene, active, persistent, conscientious, easily interacts with people, romantic, likes joint actions, dexterous, sometimes depressed, mostly calm and self-satisfied.
The nature of the sister, Gulnaz, is thoughtful, imaginative, individualistic, critical and demanding of others.
The second pair of twins of the Imamova sisters are slightly different in character. According to the questionnaire of Kettel Imamov, Ilnara: isolated, changeable in relationships and interests, calm, obedient, conscientious, easily interacts with people, courageous, more free in expressing her feelings, dexterous, self-confident and self-satisfied, etc. Without taking into account minor differences, we can say that the character of her sister Dinara is almost the same. She is more cautious, alert, emotional and serene. So, a test was conducted to study the personality characteristics of younger students developed by Cattel and R.V. Koan, according to which it turned out that the personality traits in the characters of monozygotic twins are very similar, but there are differences. This shows the influence of environmental conditions on the formation of a person's character.
In the practical part of my scientific work, I had to find out the role of heredity and environment in the development of twin traits, in this case, in the fifth and sixth grade students of the sisters Ziyaltdidov and Immov. After doing practical work, in fact, you can find that monozygotic twins are characterized by a high degree of similarity (concordance) in many ways.
When proving their answers, they relied on the same facts, using gestures and facial expressions. Therefore, genes play a significant role in the process of mental development in schoolchildren.
Thus, traits with a high level of concordance, in this case, indicators of mental development, are largely or predominantly determined by genetic factors and are little influenced by environmental conditions. Signs characterized by high discordance, personality traits, on the contrary, are mainly determined by the influence of the environment. The work I have done confirms an important conclusion that any sign of the human body is the result of the action of genes and environmental conditions.
Conclusion
There are hardly any people who are completely indifferent to the fate of their own children. Care for the immediate descendants should begin not after their birth, but long before this moment, even during family planning. According to statistics, one out of every 200 babies is born with chromosomal abnormalities, some of which are able to distort his entire future life. Moreover, in almost every adult in all body cells, including sex cells, there are several altered genes, mutations in which negatively affect their work. How will such genes affect the mental abilities and appearance of the child if he receives other defective genes from the second parent? In the United States, more than 20 million people, that is, almost one in ten, already suffer from inherited health disorders that, in different conditions and in different ways, can manifest themselves throughout life. In other countries, regardless of economic status, the situation is certainly no better.
The only thing we can do to oppose the current situation is to be aware of the seriousness of the situation and make reasonable efforts to ensure that children with severe hereditary pathologies are not born. There is a real chance for this, but for this one must, first of all, be well informed about the possibility of one's own genetic diseases or mutant genes that can cause them in offspring. Similar information can be obtained from the centers of medical genetic counseling. At the same time, the doctor does not have the right to impose his will on patients, he can and should only inform them about the possible dangers and consequences of the manifestation of genetically congenital diseases in offspring. It is curious that the first such advisory service in the world was organized in Russia, at the Institute of Neuro-Psychiatric Prevention, back in the late 1920s by the talented biologist S.N. Davidenkov. Unfortunately, the tragic consequences of the genocide carried out by Nazi Germany during the Second World War somewhat slowed down the development of a network of such consultations, since the policy of Nazism cast an ominous shadow over any attempts to correct a person's heredity for many years.
Throughout the existence of psychogenetics as a science, researchers have shown particular interest in the nature of the so-called non-adaptive forms of development (dysontogenesis). The spectrum of phenotypes studied ranged from severe, rare disorders, such as autism and childhood schizophrenia, to common behaviors that slightly deviate from the norm, such as a specific math disability.
Modern statistics compiled by the World Health Organization indicate that every tenth child living in developed countries is at risk of a deviant mode of development.
The results of psychogenetic studies carried out by various methods indicate the existence of a primary, "original", individuality, given by our heredity. The uniqueness of the genotype of each person, the high individualization of many psychologically significant environmental factors, the covariance and interaction of one and the other - these are the forces that form the infinite diversity of people. It must be remembered that psychogenetic data speak about the causes of differences between people, that is, about the origin of population variability (interindividual variability), and its conclusions cannot be transferred to assessments of the individual psychological characteristics of a particular person.
All this indicates the significant role of the genotype in the formation of various components and levels in the structure of human individuality. “Genetic influences in behavior are so ubiquitous and pervasive that a change in emphasis is warranted. Don't ask what is inherited, ask what is not inherited," write the authors of the famous book "Genetics of Behavior".
List of used literature
1. A.P. Akifiev. Genetics and fate. Moscow, 2001
2. S.Yu. Afonkin. Secrets of human heredity. St. Petersburg, 2002
3. A.A. Bogdanov, B.M. Mednikov. Power over the gene. Moscow, 1989
4. I.V. Ravich-Shcherbo, T.M. Maryutina, E.L. Grigorenko. Psychogenetics. Aspect-press, 1999
5. R.S. Nemov. Psychology. Moscow, 2000
6. V.A. Sonin. Psychodiagnostic knowledge of professional activity. St. Petersburg, 2004
7. L.V. Rebrova. Biology at school. Moscow, 2001
Class: 10
Purpose: To consolidate and summarize the knowledge of students in the section “Fundamentals of genetics and selection”, the topic “Genotype as an integral system”.
1. Educational:
- generalize and consolidate students' knowledge
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about the basic genetic laws,
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about the material foundations of heredity - genes and chromosomes,
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about the cytological foundations of genetic laws and the hypothesis of the purity of gametes,
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to deepen knowledge about the genotype as a holistic, historically established system,
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reveal the manifestation of the relationship and interaction of genes with each other, affecting the manifestation of various traits.
2. Developing:
– to promote the development of educational and general educational skills:
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observations, comparisons and generalizations, formulation of evidence and conclusions;
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developing the ability to find errors and explain them;
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the ability to think logically;
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develop teamwork skills.
3. Educational:
- to promote the formation of a materialistic view of students about the scientific picture of the world,
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show the importance of scientific discoveries in the life of society and the development of the science of biology, its branches, the importance of applying this knowledge in various spheres of life,
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to promote the aesthetic development of students through the use of visual materials of the lesson, the use of theatrical.
Equipment: educational complex Biology. Grade 10, DNA chain model, collection of tomato varieties, dynamic model “Linked inheritance in Drosophila flies”, table “Inheritance of dominant and recessive traits in various organisms”, students' drawings.
Pedagogical technologies, techniques and methods used in the lesson: “Catch the mistake”, “Yes-no” (TRIZ), practicality of knowledge, theatricalization, group work (CSR), frontal work.
During the classes
A. Beginning of the lesson.
1. Acquaintance with the objectives of the lesson.
Teacher: Today at the lesson:
- We will admire the deep knowledge of genetics, show the knowledge of genetic laws.
- We will show the ability to solve genetic problems.
2. Biological mystery. “I have been wearing them for many years, but I don’t know how many of them” (The answer from a genetic point of view is genes.)
3. Logical task. We logically connect objects on the teacher's table. What unites them?
- DNA chain model.
- Tomatoes of different shapes and colors.
4. Front work. Characteristics of a gene.
- A gene is a section of a DNA chain that defines a trait.
- Genes are dominant A and recessive a.
- Allelic AA, Aa and non-allelic AB, ab.
- Genes are inherited and can also change.
B. Testing knowledge and applying it to a new situation
The game
“Yes - no"A genetic phenomenon is conceived, reflected in the proverb “ Marriage does not attack, as it were marrying not to abyss” Analysis of folk wisdom in the proverb, the transition to genetics.
Students ask questions to the teacher, who only answers yes or no.
Students:
- Is this phenomenon characteristic of all kingdoms of living nature? Yes.
- Does it only appear in the homozygous state? No.
- Is it manifested in a heterozygous organism according to a certain trait? Yes.
- Is it dominance? Yes
Demonstration on a magnetic board.
1. Crossing of Drosophila flies with a gray and black body. hybrids – black.
Question to the class: What are you observing?
Students answer: The phenomenon of dominance. uniformity rule. Hybrid F1.
2. Crossing two individuals with different phenotypes. In hybrids, splitting is not observed.
Question to the class: What cross is shown?
Students answer: Analyzing cross to determine the genotype of one of the parent individuals.
Frontal conversation
Question to the class: What other laws of genetics do you know?
Students answer: Mendel's first law, the law of splitting. Mendel's second law, independent distribution of genes. (Reveal their essence).
Pair work “Catch the mistake”
(Mistakes were made in the conditions of the problem, they find errors, working in pairs) Answer
Theatricalization “Genetic consultation”Teacher: – And now, I think, we are ready for the opening of the Genetic Consultation. (Group work)
Students are divided into 4 groups:
1 group –
Department of Human Genetics
2 group –
Department of Animal Genetics
3 group –
Department of Plant Genetics
4 group –
Trainees (children work on solving problems of the reproductive level using a textbook, if desired).
First visitor enters – 10th grade student.
“Hello, I have a son, Proshenka. Handsome hand-written: blue-eyed, fair-haired, curly, tall. Here is his portrait, (shows a painted portrait) In our family, from time immemorial, everyone is curly, but tall. Proshenka, of course, with such an appearance, went to the artists. Now he was invited to act in Hollywood. Proshenka decided to marry, but he can’t choose from three brides – everyone is good, both in character and appearance. He sent color photographs. girls – foreign women, but if only they loved my son, but gave birth to grandchildren, at least a little like I ask, (shows a portrait) Japanese Li – brown-eyed, with black, straight hair, short German Monika – blue-eyed, with blond, straight hair, little English Mary – green-eyed, dark-haired, curly, tall.
“Consultants”, solving problems, determine what is the probability of having a child with Prosha's signs in each of the possible marriages. Use the table "Dominant and recessive traits in humans."
| BUT- | – Brown eyes | AT | – dark-haired | D – slight growth | |
| BUT / | – green eyes | in | – blonde hair | d – high growth | |
| a- | Blue eyes | FROM | – curly hair | ||
| With | – straight hair |
Three people in the group, each makes his own calculation, then the result is discussed and analyzed.
Conclusion: Prosha can marry Monica so that the child looks like him in three ways. Mary also has a chance. 50% chance.
The second group - Animal genetics
They are approached by a customs officer (10th grade student)
“I am a customs officer in the small state of Lisland. We have been breeding foxes for centuries. Fur is exported, and the money from its sale forms the basis of the country's economy. Silver foxes are especially valued among us. They are considered a national treasure, and it is strictly forbidden to transport them across the border by the law of the country. I detained a smuggler, he transported two foxes of different sexes, red color across the border and claims that he does not violate the laws of Lysland, so I need a genetic consultation.
Answer: the result will be 1/3 of the foxes with a gray color. Conclusion: Red foxes must be seized from the smuggler because they are heterozygous for color and can give a splitting of 3: 1 according to Mendel's first law.
The third visitor says that he ordered snapdragon flowers with different colors of the corolla. After receiving the parcel, I read – F1 – Pink colour. I wanted to, I was already writing an indignant letter to the company, but I decided to go to genetic counseling.
The consultants do the math. Plant genetics.
Answer: From the company “Among Flowers” they sent hybrid seeds, heterozygous with incomplete dominance. After sowing them, you can get flowers of different colors.
From each group of consultants, one student gives explanations at the blackboard. The visitors thank the consultants.
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