How many codons are in the genetic code. What is the genetic code: general information

Genetic code- a unified system for recording hereditary information in nucleic acid molecules in the form of a sequence of nucleotides. The genetic code is based on the use of an alphabet consisting of only four letters A, T, C, G, corresponding to DNA nucleotides. There are 20 types of amino acids in total. Of the 64 codons, three - UAA, UAG, UGA - do not encode amino acids, they were called nonsense codons, they perform the function of punctuation marks. Codon (coding trinucleotide) - a unit of the genetic code, a triplet of nucleotide residues (triplet) in DNA or RNA, encoding the inclusion of one amino acid. The genes themselves are not involved in protein synthesis. The mediator between gene and protein is mRNA. The structure of the genetic code is characterized by the fact that it is triplet, that is, it consists of triplets (triples) of nitrogenous bases of DNA, called codons. From 64

Gene properties. code
1) Tripletity: one amino acid is encoded by three nucleotides. These 3 nucleotides in DNA
are called triplet, in mRNA - codon, in tRNA - anticodon.
2) Redundancy (degeneracy): there are only 20 amino acids, and there are 61 triplets encoding amino acids, so each amino acid is encoded by several triplets.
3) Uniqueness: each triplet (codon) encodes only one amino acid.
4) Universality: the genetic code is the same for all living organisms on Earth.
5.) continuity and indisputability of codons during reading. This means that the nucleotide sequence is read triple by triplet without gaps, while neighboring triplets do not overlap.

88. Heredity and variability are the fundamental properties of the living. Darwinian understanding of the phenomena of heredity and variability.
heredity called the common property of all organisms to preserve and transmit traits from parent to offspring. Heredity- this is the property of organisms to reproduce in generations a similar type of metabolism that has developed in the process historical development species and manifests itself under certain conditions external environment.
Variability there is a process of the emergence of qualitative differences between individuals of the same species, which is expressed either in a change under the influence of the external environment of only one phenotype, or in genetically determined hereditary variations resulting from combinations, recombinations and mutations that occur in a number of successive generations and populations.
Darwinian understanding of heredity and variability.
Under heredity Darwin understood the ability of organisms to preserve their species, varietal and individual characteristics in their offspring. This feature was well known and represented hereditary variability. Darwin analyzed in detail the importance of heredity in the evolutionary process. He drew attention to cases of single-color hybrids of the first generation and splitting of characters in the second generation, he was aware of heredity associated with sex, hybrid atavisms and a number of other phenomena of heredity.
Variability. Comparing many breeds of animals and plant varieties, Darwin noticed that within any species of animals and plants, and in culture, within any variety and breed, there are no identical individuals. Darwin concluded that all animals and plants are characterized by variability.
Analyzing the material on the variability of animals, the scientist noticed that any change in the conditions of detention is enough to cause variability. Thus, by variability, Darwin understood the ability of organisms to acquire new characteristics under the influence of environmental conditions. He distinguished the following forms of variability:
Certain (group) variability(now called modification) - a similar change in all individuals of the offspring in one direction due to the influence of certain conditions. Certain changes are usually non-hereditary.
Uncertain individual variability(now called genotypic) - the appearance of various minor differences in individuals of the same species, variety, breed, by which, existing in similar conditions, one individual differs from others. Such multidirectional variability is a consequence of the indefinite influence of the conditions of existence on each individual.
Correlative(or relative) variability. Darwin understood the organism as an integral system, the individual parts of which are closely interconnected. Therefore, a change in the structure or function of one part often causes a change in another or others. An example of such variability is the relationship between the development of a functioning muscle and the formation of a ridge on the bone to which it is attached. In many wading birds, there is a correlation between neck length and limb length: long-necked birds also have long limbs.
Compensatory variability consists in the fact that the development of some organs or functions is often the cause of the oppression of others, i.e., an inverse correlation is observed, for example, between milkiness and fleshiness of cattle.

89. Modification variability. The reaction rate of genetically determined traits. Phenocopies.
Phenotypic variability covers changes in the state of directly signs that occur under the influence of developmental conditions or environmental factors. The range of modification variability is limited by the reaction rate. The resulting specific modification change in a trait is not inherited, but the range of modification variability is due to heredity. In this case, the hereditary material is not involved in the change.
reaction rate- this is the limit of the modification variability of the trait. The reaction rate is inherited, not the modifications themselves, i.e. the ability to develop a trait, and the form of its manifestation depends on environmental conditions. The reaction rate is a specific quantitative and qualitative characteristic of the genotype. There are signs with a wide reaction norm, a narrow () and an unambiguous norm. reaction rate has limits or boundaries for each biological species (lower and upper) - for example, increased feeding will lead to an increase in the mass of the animal, however, it will be within the normal reaction characteristic of this species or breed. The reaction rate is genetically determined and inherited. For different traits, the limits of the reaction norm vary greatly. For example, the value of milk yield, the productivity of cereals and many other quantitative traits have wide limits of the reaction norm, narrow limits - the color intensity of most animals and many other qualitative traits. Under the influence of some harmful factors that a person does not encounter in the process of evolution, the possibility of modification variability, which determines the norms of the reaction, is excluded.
Phenocopies- changes in the phenotype under the influence of unfavorable environmental factors, similar in manifestation to mutations. The resulting phenotypic modifications are not inherited. It has been established that the occurrence of phenocopies is associated with the influence of external conditions on a certain limited stage of development. Moreover, the same agent, depending on which phase it acts on, can copy different mutations, or one stage reacts to one agent, another to another. Different agents can be used to evoke the same phenocopy, indicating that there is no relationship between the result of the change and the influencing factor. The most complex genetic disorders of development are relatively easy to reproduce, while it is much more difficult to copy signs.

90. Adaptive nature of the modification. The role of heredity and environment in the development, training and education of a person.
Modification variability corresponds to habitat conditions, has an adaptive character. Such features as the growth of plants and animals, their weight, color, etc. are subject to modification variability. The occurrence of modification changes is due to the fact that environmental conditions affect the enzymatic reactions that occur in the developing organism and, to a certain extent, change its course.
Since the phenotypic manifestation of hereditary information can be modified by environmental conditions, only the possibility of their formation within certain limits, called the reaction norm, is programmed in the organism's genotype. The reaction rate represents the limits of the modification variability of a trait allowed for a given genotype.
The degree of expression of the trait during the implementation of the genotype in various conditions is called expressivity. It is associated with the variability of the trait within the normal range of the reaction.
The same trait may appear in some organisms and be absent in others that have the same gene. The quantitative measure of the phenotypic expression of a gene is called penetrance.
Expressivity and penetrance are supported by natural selection. Both patterns must be kept in mind when studying heredity in humans. By changing the environmental conditions, penetrance and expressivity can be influenced. The fact that the same genotype can be the source of the development of different phenotypes is of significant importance for medicine. This means that burdened does not necessarily have to appear. Much depends on the conditions in which the person is. In some cases, the disease as a phenotypic manifestation of hereditary information can be prevented by dieting or taking medicines. The implementation of hereditary information depends on the environment. Being formed on the basis of a historically established genotype, modifications are usually adaptive in nature, since they are always the result of responses of a developing organism to those affecting it. environmental factors. A different nature of mutational changes: they are the result of changes in the structure of the DNA molecule, which causes a violation in the previously established process of protein synthesis. when mice are kept at elevated temperatures, their offspring are born with elongated tails and enlarged ears. Such a modification is adaptive in nature, since the protruding parts (tail and ears) play a thermoregulatory role in the body: an increase in their surface allows for an increase in heat transfer.

Human genetic potential is limited in time, and quite severely. If you miss the period of early socialization, it will fade away without having time to be realized. A striking example of this statement are the numerous cases when babies, by force of circumstances, fell into the jungle and spent several years among the animals. After their return to the human community, they could not fully catch up: to master speech, to acquire fairly complex skills of human activity, their mental functions of a person did not develop well. This is evidence that the characteristic features of human behavior and activity are acquired only through social inheritance, only through the transmission of a social program in the process of education and training.

Identical genotypes (in identical twins), being in various environments may produce different phenotypes. Taking into account all the factors of influence, the human phenotype can be represented as consisting of several elements.

These include: biological inclinations encoded in genes; environment (social and natural); the activity of the individual; mind (consciousness, thinking).

The interaction of heredity and environment in the development of a person plays an important role throughout his life. But it acquires special importance during the periods of formation of the organism: embryonic, infant, child, adolescent and youthful. It is at this time that an intensive process of development of the body and the formation of personality is observed.

Heredity determines what an organism can become, but a person develops under the simultaneous influence of both factors - heredity and environment. Today it becomes generally recognized that human adaptation is carried out under the influence of two programs of heredity: biological and social. All signs and properties of any individual are the result of the interaction of his genotype and environment. Therefore, each person is both a part of nature and a product of social development.

91. Combinative variability. The value of combinative variability in ensuring the genotypic diversity of people: Systems of marriages. Medical genetic aspects of the family.
Combination variability associated with obtaining new combinations of genes in the genotype. This is achieved as a result of three processes: a) independent divergence of chromosomes during meiosis; b) their random combination during fertilization; c) gene recombination due to Crossing over. The hereditary factors (genes) themselves do not change, but new combinations of them arise, which leads to the appearance of organisms with other genotypic and phenotypic properties. Due to combinative variability creates a variety of genotypes in the offspring, which has great importance for the evolutionary process due to the fact that: 1) the diversity of material for the evolutionary process increases without reducing the viability of individuals; 2) the possibilities of adapting organisms to changing environmental conditions are expanding and thereby ensuring the survival of a group of organisms (populations, species) as a whole

The composition and frequency of alleles in people, in populations, largely depend on the types of marriages. In this regard, the study of types of marriages and their medical and genetic consequences is of great importance.

Marriages can be: electoral, indiscriminate.

To the indiscriminate include panmix marriages. panmixia(Greek nixis - mixture) - marriages between people with different genotypes.

Selective marriages: 1. Outbreeding- marriages between people who do not have family ties according to a previously known genotype, 2.Inbreeding- marriages between relatives 3.Positively assortative- marriages between individuals with similar phenotypes between (deaf and dumb, short with short, tall with tall, weak-minded with weak-minded, etc.). 4. Negative-assortative-marriages between people with dissimilar phenotypes (deaf-mute-normal; short-tall; normal-with freckles, etc.). 4.Incest- marriages between close relatives (between brother and sister).

Inbred and incest marriages are prohibited by law in many countries. Unfortunately, there are regions with a high frequency of inbred marriages. Until recently, the frequency of inbred marriages in some regions Central Asia reached 13-15%.

Medical genetic significance inbred marriages is highly negative. In such marriages, homozygotization is observed, the frequency of autosomal recessive diseases increases by 1.5-2 times. Inbred populations show inbreeding depression; the frequency increases sharply, the frequency of unfavorable recessive alleles increases, and infant mortality increases. Positive assortative marriages also lead to similar phenomena. Outbreeding has a positive genetic value. In such marriages, heterozygotization is observed.

92. Mutational variability, classification of mutations according to the level of change in the lesion of hereditary material. Mutations in sex and somatic cells.
mutation called a change due to the reorganization of reproducing structures, a change in its genetic apparatus. Mutations occur abruptly and are inherited. Depending on the level of change in the hereditary material, all mutations are divided into genetic, chromosomal and genomic.
Gene mutations, or transgenerations, affect the structure of the gene itself. Mutations can change sections of the DNA molecule of different lengths. smallest plot, the change of which leads to the appearance of a mutation, is called a muton. It can only be made up of a couple of nucleotides. A change in the sequence of nucleotides in DNA causes a change in the sequence of triplets and, ultimately, a program for protein synthesis. It should be remembered that disturbances in the DNA structure lead to mutations only when repair is not carried out.
Chromosomal mutations, chromosomal rearrangements or aberrations consist in a change in the amount or redistribution of the hereditary material of chromosomes.
Reorganizations are divided into nutrichromosomal and interchromosomal. Intrachromosomal rearrangements consist in the loss of a part of the chromosome (deletion), doubling or multiplication of some of its sections (duplication), turning a chromosome fragment by 180 ° with a change in the sequence of genes (inversion).
Genomic mutations associated with a change in the number of chromosomes. Genomic mutations include aneuploidy, haploidy, and polyploidy.
Aneuploidy called a change in the number of individual chromosomes - the absence (monosomy) or the presence of additional (trisomy, tetrasomy, in general polysomy) chromosomes, i.e. an unbalanced chromosome set. Cells with an altered number of chromosomes appear as a result of disturbances in the process of mitosis or meiosis, and therefore distinguish between mitotic and meiotic aneuploidy. A multiple decrease in the number of chromosome sets of somatic cells compared to a diploid one is called haploidy. The multiple attraction of the number of chromosome sets of somatic cells in comparison with the diploid one is called polyploidy.
These types of mutations are found both in germ cells and in somatic cells. Mutations that occur in germ cells are called generative. They are passed on to subsequent generations.
Mutations that occur in body cells at a particular stage of the individual development of an organism are called somatic. Such mutations are inherited by the descendants of only the cell in which it occurred.

93. Gene mutations, molecular mechanisms of occurrence, frequency of mutations in nature. Biological antimutation mechanisms.
Modern genetics emphasizes that gene mutations consist in changing the chemical structure of genes. Specifically, gene mutations are substitutions, insertions, deletions and losses of base pairs. The smallest section of the DNA molecule, the change of which leads to a mutation, is called a muton. It is equal to one pair of nucleotides.
There are several classifications of gene mutations. . Spontaneous(spontaneous) is called a mutation that occurs without direct connection with any physical or chemical factor external environment.
If mutations are caused intentionally, by exposure to factors of a known nature, they are called induced. The agent that induces mutations is called mutagen.
The nature of mutagens is varied- it physical factors, chemical compounds. The mutagenic effect of some biological objects - viruses, protozoa, helminths - has been established when they enter the human body.
As a result of dominant and recessive mutations, dominant and recessive altered traits appear in the phenotype. Dominant mutations appear in the phenotype already in the first generation. recessive mutations are sheltered in heterozygotes from the action natural selection, therefore, they accumulate in the gene pools of species in large numbers.
An indicator of the intensity of the mutation process is the mutation frequency, which is calculated on average for the genome or separately for specific loci. The average mutation frequency is comparable in a wide range of living beings (from bacteria to humans) and does not depend on the level and type of morphophysiological organization. It is equal to 10 -4 - 10 -6 mutations per 1 locus per generation.
Anti-mutation mechanisms.
The pairing of chromosomes in the diploid karyotype of eukaryotic somatic cells serves as a protection factor against the adverse consequences of gene mutations. The pairing of allele genes prevents the phenotypic manifestation of mutations if they are recessive.
The phenomenon of extracopying of genes encoding vital macromolecules contributes to the reduction of the harmful effects of gene mutations. An example is the genes for rRNA, tRNA, histone proteins, without which the vital activity of any cell is impossible.
These mechanisms contribute to the preservation of genes selected during evolution and, at the same time, the accumulation of various alleles in the gene pool of a population, forming a reserve of hereditary variability.

94. Genomic mutations: polyploidy, haploidy, heteroploidy. Mechanisms of their occurrence.
Genomic mutations are associated with a change in the number of chromosomes. Genomic mutations are heteroploidy, haploidy and polyploidy.
Polyploidy- an increase in the diploid number of chromosomes by adding whole sets of chromosomes as a result of a violation of meiosis.
In polyploid forms, there is an increase in the number of chromosomes, a multiple of the haploid set: 3n - triploid; 4n is a tetraploid, 5n is a pentaploid, etc.
Polyploid forms differ phenotypically from diploid ones: along with a change in the number of chromosomes, hereditary properties also change. In polyploids, the cells are usually large; sometimes the plants are gigantic.
Forms resulting from the multiplication of chromosomes of one genome are called autoploid. However, another form of polyploidy is also known - alloploidy, in which the number of chromosomes of two different genomes is multiplied.
A multiple decrease in the number of chromosome sets of somatic cells compared to a diploid one is called haploidy. haploid organisms in vivo habitats are found mainly among plants, including higher ones (datura, wheat, corn). The cells of such organisms have one chromosome of each homologous pair, so all recessive alleles appear in the phenotype. This explains the reduced viability of haploids.
heteroploidy. As a result of violations of mitosis and meiosis, the number of chromosomes can change and not become a multiple of the haploid set. The phenomenon when any of the chromosomes, instead of being a pair, is in a triple number, is called trisomy. If trisomy is observed on one chromosome, then such an organism is called a trisomic and its chromosome set is 2n + 1. Trisomy can be on any of the chromosomes and even on several. With double trisomy, it has a set of chromosomes 2n + 2, triple - 2n + 3, etc.
The opposite phenomenon trisomy, i.e. the loss of one of the chromosomes from a pair in a diploid set is called monosomy, the organism is monosomic; its genotypic formula is 2p-1. In the absence of two distinct chromosomes, the organism is a double monosomic with the genotypic formula 2n-2, and so on.
From what has been said, it is clear that aneuploidy, i.e. violation of the normal number of chromosomes, leads to changes in the structure and to a decrease in the viability of the organism. The greater the disturbance, the lower the viability. In humans, the disruption of a balanced set of chromosomes entails disease states known as common name chromosomal diseases.
Origin mechanism genomic mutations is associated with the pathology of a violation of the normal divergence of chromosomes in meiosis, resulting in the formation of abnormal gametes, which leads to a mutation. Changes in the body are associated with the presence of genetically heterogeneous cells.

95. Methods for studying human heredity. Genealogical and twin methods, their significance for medicine.
The main methods for studying human heredity are genealogical, twin, population-statistical, dermatoglyphics method, cytogenetic, biochemical, somatic cell genetics method, modeling method
genealogical method. The basis of this method is the compilation and analysis of pedigrees. A pedigree is a diagram that reflects the relationships between family members. Analyzing pedigrees, they study any normal or (more often) pathological trait in the generations of people who are related.
Genealogical methods are used to determine the hereditary or non-hereditary nature of a trait, dominance or recessiveness, chromosome mapping, sex linkage, to study the mutation process. As a rule, the genealogical method forms the basis for conclusions in medical genetic counseling.
When compiling pedigrees, standard notation is used. The person with whom the study begins is the proband. The offspring of a married couple is called a sibling, siblings are called siblings, cousins ​​are called cousins, and so on. Descendants who have a common mother (but different fathers) are called consanguineous, and descendants who have a common father (but different mothers) are called consanguineous; if the family has children from different marriages, and they do not have common ancestors (for example, a child from the mother’s first marriage and a child from the father’s first marriage), then they are called consolidated.
With the help of the genealogical method, the hereditary conditionality of the studied trait, as well as the type of its inheritance, can be established. When analyzing pedigrees for several traits, the linked nature of their inheritance can be revealed, which is used when compiling chromosome maps. This method allows one to study the intensity of the mutation process, to evaluate the expressivity and penetrance of the allele.
twin method. It consists in studying the patterns of inheritance of traits in pairs of identical and dizygotic twins. Twins are two or more children conceived and born by the same mother at almost the same time. There are identical and fraternal twins.
Identical (monozygous, identical) twins occur at the earliest stages of zygote cleavage, when two or four blastomeres retain the ability to develop into a full-fledged organism during isolation. Since the zygote divides by mitosis, the genotypes of identical twins, at least initially, are completely identical. Identical twins are always of the same sex and share the same placenta during fetal development.
Fraternal (dizygotic, non-identical) occur during the fertilization of two or more simultaneously mature eggs. Thus, they share about 50% of their genes. In other words, they are similar to ordinary brothers and sisters in their genetic constitution and can be either same-sex or different-sex.
When comparing identical and fraternal twins raised in the same environment, one can draw a conclusion about the role of genes in the development of traits.
The twin method allows you to make reasonable conclusions about the heritability of traits: the role of heredity, environment and random factors in determining certain traits of a person
Prevention and diagnosis of hereditary pathology
Currently, the prevention of hereditary pathology is carried out at four levels: 1) pregametic; 2) prezygotic; 3) prenatal; 4) neonatal.
1.) Pre-gametic level
Implemented:
1. Sanitary control over production - exclusion of the influence of mutagens on the body.
2. The release of women of childbearing age from work in hazardous industries.
3. Creation of lists of hereditary diseases that are common in a certain
territories with def. frequent.
2. Prezygotic level
The most important element of this level of prevention is medical genetic counseling (MGC) of the population, informing the family about the degree of possible risk of having a child with a hereditary pathology and assisting in making the right decision about childbearing.
prenatal level
It consists in conducting prenatal (prenatal) diagnostics.
Prenatal diagnosis- This is a set of measures that is carried out in order to determine the hereditary pathology in the fetus and terminate this pregnancy. Prenatal diagnostic methods include:
1. Ultrasonic scanning (USS).
2. Fetoscopy- a method of visual observation of the fetus in the uterine cavity through an elastic probe equipped with an optical system.
3. Chorionic biopsy. The method is based on taking chorionic villi, culturing cells and examining them using cytogenetic, biochemical and molecular genetic methods.
4. Amniocentesis– puncture of the amniotic sac through the abdominal wall and taking
amniotic fluid. It contains fetal cells that can be examined
cytogenetically or biochemically, depending on the presumed pathology of the fetus.
5. Cordocentesis- puncture of the vessels of the umbilical cord and taking the blood of the fetus. Fetal lymphocytes
cultivated and tested.
4. Neonatal level
At the fourth level, newborns are screened to detect autosomal recessive metabolic diseases in the preclinical stage, when timely treatment begins to ensure the normal mental and physical development of children.

Principles of treatment of hereditary diseases
There are the following types of treatment.
1. symptomatic(impact on the symptoms of the disease).
2. pathogenetic(impact on the mechanisms of disease development).
Symptomatic and pathogenetic treatment does not eliminate the causes of the disease, because. does not liquidate
genetic defect.
The following methods can be used in symptomatic and pathogenetic treatment.
· Correction malformations by surgical methods (syndactyly, polydactyly,
cleft upper lip...
Substitution therapy, the meaning of which is to introduce into the body
missing or insufficient biochemical substrates.
· Metabolism induction- the introduction into the body of substances that enhance the synthesis
some enzymes and, therefore, speed up the processes.
· Metabolic inhibition- the introduction into the body of drugs that bind and remove
abnormal metabolic products.
· diet therapy ( therapeutic nutrition) - the elimination from the diet of substances that
cannot be absorbed by the body.
Outlook: In the near future, genetics will develop intensively, although it is still
very widespread in crops (breeding, cloning),
medicine (medical genetics, genetics of microorganisms). In the future, scientists hope
use genetics to eliminate defective genes and eradicate transmitted diseases
by inheritance, be able to treat serious diseases such as cancer, viral
infections.

With all the shortcomings of the modern assessment of the radiogenetic effect, there is no doubt about the seriousness of the genetic consequences that await humanity in the event of an uncontrolled increase in the radioactive background in environment. The danger of further testing of atomic and hydrogen weapons is obvious.
At the same time, the use of atomic energy in genetics and breeding makes it possible to create new methods for controlling the heredity of plants, animals and microorganisms, and to better understand the processes of genetic adaptation of organisms. In connection with human flights into outer space, it becomes necessary to investigate the influence of the cosmic reaction on living organisms.

98. Cytogenetic method for diagnosing human chromosomal disorders. Amniocentesis. Karyotype and idiogram of human chromosomes. biochemical method.
The cytogenetic method consists in studying chromosomes using a microscope. More often, mitotic (metaphase) chromosomes serve as the object of study, less often meiotic (prophase and metaphase) chromosomes. Cytogenetic methods are used when studying the karyotypes of individual individuals
Obtaining the material of the organism developing in utero is carried out in different ways. One of them is amniocentesis, with the help of which, at 15-16 weeks of gestation, an amniotic fluid is obtained containing waste products of the fetus and cells of its skin and mucous membranes
The material taken during amniocentesis is used for biochemical, cytogenetic and molecular chemical studies. Cytogenetic methods determine the sex of the fetus and identify chromosomal and genomic mutations. The study of amniotic fluid and fetal cells using biochemical methods makes it possible to detect a defect in the protein products of genes, but does not make it possible to determine the localization of mutations in the structural or regulatory part of the genome. An important role in the detection of hereditary diseases and the exact localization of damage to the hereditary material of the fetus is played by the use of DNA probes.
Currently, with the help of amniocentesis, all chromosomal abnormalities, more than 60 hereditary metabolic diseases, maternal and fetal incompatibility for erythrocyte antigens are diagnosed.
The diploid set of chromosomes in a cell, characterized by their number, size and shape, is called karyotype. A normal human karyotype includes 46 chromosomes, or 23 pairs: of which 22 pairs are autosomes and one pair is sex chromosomes.
In order to make it easier to understand the complex complex of chromosomes that make up the karyotype, they are arranged in the form idiograms. V idiogram Chromosomes are arranged in pairs in descending order, with the exception of the sex chromosomes. The largest pair was assigned No. 1, the smallest - No. 22. Identification of chromosomes only by size encounters great difficulties: a number of chromosomes have similar sizes. However, recently, by using various kinds of dyes, a clear differentiation of human chromosomes along their length into stripes that are stained by special methods and not stained has been established. The ability to accurately differentiate chromosomes is of great importance for medical genetics, as it allows you to accurately determine the nature of disorders in the human karyotype.
Biochemical method

99. Karyotype and idiogram of a person. Characteristics of the human karyotype is normal
and pathology.
Karyotype- a set of features (number, size, shape, etc.) of a complete set of chromosomes,
inherent in cells of a given biological species (species karyotype), a given organism
(individual karyotype) or line (clone) of cells.
To determine the karyotype, microphotography or a sketch of chromosomes is used during microscopy of dividing cells.
Each person has 46 chromosomes, two of which are sex chromosomes. A woman has two X chromosomes.
(karyotype: 46, XX), while men have one X chromosome and the other Y (karyotype: 46, XY). Study
The karyotype is done using a technique called cytogenetics.
Idiogram- a schematic representation of the haploid set of chromosomes of an organism, which
arranged in a row in accordance with their sizes, in pairs in descending order of their sizes. An exception is made for the sex chromosomes, which stand out especially.
Examples of the most common chromosomal pathologies.
Down syndrome is a trisomy of the 21st pair of chromosomes.
Edwards syndrome is a trisomy of the 18th pair of chromosomes.
Patau syndrome is a trisomy of the 13th pair of chromosomes.
Klinefelter's syndrome is a polysomy of the X chromosome in boys.

100. Significance of genetics for medicine. Cytogenetic, biochemical, population-statistical methods for studying human heredity.
The role of genetics in human life is very important. It is implemented with the help of medical genetic counseling. Medical genetic counseling is designed to save humanity from the suffering associated with hereditary (genetic) diseases. The main goals of medical genetic counseling are to establish the role of the genotype in the development of this disease and to predict the risk of having diseased offspring. The recommendations given in medical genetic consultations regarding the conclusion of a marriage or the prognosis of the genetic usefulness of the offspring are aimed at ensuring that they are taken into account by the consulted persons, who voluntarily make the appropriate decision.
Cytogenetic (karyotypic) method. The cytogenetic method consists in studying chromosomes using a microscope. More often, mitotic (metaphase) chromosomes serve as the object of study, less often meiotic (prophase and metaphase) chromosomes. This method is also used to study sex chromatin ( barr bodies) Cytogenetic methods are used when studying the karyotypes of individual individuals
The use of the cytogenetic method allows not only to study the normal morphology of chromosomes and the karyotype as a whole, to determine the genetic sex of the organism, but, most importantly, to diagnose various chromosomal diseases associated with a change in the number of chromosomes or a violation of their structure. In addition, this method makes it possible to study the processes of mutagenesis at the level of chromosomes and karyotype. Its use in medical genetic counseling for the purposes of prenatal diagnosis of chromosomal diseases makes it possible to prevent the appearance of offspring with severe developmental disorders by timely termination of pregnancy.
Biochemical method consists in determining the activity of enzymes or the content of certain metabolic products in the blood or urine. Using this method, metabolic disorders are detected and are caused by the presence in the genotype of an unfavorable combination of allelic genes, more often recessive alleles in the homozygous state. With the timely diagnosis of such hereditary diseases, preventive measures can avoid serious developmental disorders.
Population-statistical method. This method makes it possible to estimate the probability of the birth of persons with a certain phenotype in a given population group or in closely related marriages; calculate the carrier frequency in the heterozygous state of recessive alleles. The method is based on the Hardy-Weinberg law. Hardy-Weinberg law is the law population genetics. The law states: "In an ideal population, the frequencies of genes and genotypes remain constant from generation to generation."
The main features of human populations are: common territory and the possibility of free marriage. Factors of isolation, i.e., restrictions on the freedom of choice of spouses, for a person can be not only geographical, but also religious and social barriers.
In addition, this method makes it possible to study the mutation process, the role of heredity and environment in the formation of human phenotypic polymorphism according to normal traits, as well as in the occurrence of diseases, especially with a hereditary predisposition. The population-statistical method is used to determine the significance of genetic factors in anthropogenesis, in particular in racial formation.

101. Structural disorders (aberrations) of chromosomes. Classification depending on the change in genetic material. Significance for biology and medicine.
Chromosomal aberrations result from rearrangement of chromosomes. They are the result of a break in the chromosome, leading to the formation of fragments that are later reunited, but the normal structure of the chromosome is not restored. There are 4 main types of chromosomal aberrations: shortage, doubling, inversion, translocations, deletion- the loss of a certain part of the chromosome, which is then usually destroyed
shortages arise due to the loss of a chromosome of one or another site. Deficiencies in the middle part of the chromosome are called deletions. The loss of a significant part of the chromosome leads the organism to death, the loss of minor sections causes a change in hereditary properties. So. With a shortage of one of the chromosomes in corn, its seedlings are deprived of chlorophyll.
Doubling due to the inclusion of an extra, duplicating section of the chromosome. It also leads to the emergence of new features. So, in Drosophila, the gene for striped eyes is due to the doubling of a section of one of the chromosomes.
Inversions are observed when the chromosome is broken and the detached section is turned 180 degrees. If the break occurred in one place, the detached fragment is attached to the chromosome with the opposite end, but if in two places, then the middle fragment, turning over, is attached to the places of the break, but with different ends. According to Darwin, inversions play an important role in the evolution of species.
Translocations occur when a segment of a chromosome from one pair is attached to a non-homologous chromosome, i.e. chromosome from another pair. Translocation sections of one of the chromosomes is known in humans; it may be the cause of Down's disease. Most translocations affecting large sections of chromosomes make the organism unviable.
Chromosomal mutations change the dose of some genes, cause the redistribution of genes between linkage groups, change their localization in the linkage group. By doing this, they disrupt the gene balance of the cells of the body, resulting in deviations in the somatic development of the individual. As a rule, changes extend to several organ systems.
Chromosomal aberrations are of great importance in medicine. At chromosomal aberrations, there is a delay in overall physical and mental development. Chromosomal diseases are characterized by a combination of many congenital defects. Such a defect is the manifestation of Down syndrome, which is observed in the case of trisomy in a small segment of the long arm of chromosome 21. The picture of the cat's cry syndrome develops with the loss of a portion of the short arm of chromosome 5. In humans, malformations of the brain, musculoskeletal, cardiovascular, and genitourinary systems are most often noted.

102. The concept of species, modern views on speciation. View criteria.
View is a collection of individuals that are similar in terms of the criteria of the species to such an extent that they can
interbreed under natural conditions and produce fertile offspring.
fertile offspring- one that can reproduce itself. An example of infertile offspring is a mule (a hybrid of a donkey and a horse), it is sterile.
View criteria- these are signs by which 2 organisms are compared to determine whether they belong to the same species or to different ones.
Morphological - internal and external structure.
Physiological-biochemical - how organs and cells work.
Behavioral - behavior, especially at the time of reproduction.
Ecological - a set of environmental factors necessary for life
species (temperature, humidity, food, competitors, etc.)
Geographic - area (distribution area), i.e. area where he lives this species.
Genetic-reproductive - the same number and structure of chromosomes, which allows organisms to produce fertile offspring.
View criteria are relative, i.e. one cannot judge the species by one criterion. For example, there are twin species (in the malarial mosquito, in rats, etc.). They do not differ morphologically from each other, but have a different number of chromosomes and therefore do not give offspring.

103. Population. Its ecological and genetic characteristics and role in speciation.
population- a minimal self-reproducing grouping of individuals of the same species, more or less isolated from other similar groups, inhabiting a certain area for a long series of generations, forming its own genetic system and forming its own ecological niche.
Ecological indicators of the population.
population is the total number of individuals in the population. This value is characterized by a wide range of variability, but it cannot be below certain limits.
Density- the number of individuals per unit area or volume. Population density tends to increase as population size increases.
Spatial structure The population is characterized by the peculiarities of the distribution of individuals in the occupied territory. It is determined by the properties of the habitat and biological features kind.
Sex structure reflects a certain ratio of males and females in a population.
Age structure reflects the ratio of different age groups in populations, depending on life expectancy, the time of onset of puberty, and the number of offspring.
Genetic indicators of the population. Genetically, a population is characterized by its gene pool. It is represented by a set of alleles that form the genotypes of organisms in a given population.
When describing populations or comparing them with each other, a number of genetic characteristics are used. Polymorphism. A population is said to be polymorphic at a given locus if it contains two or more alleles. If the locus is represented by a single allele, they speak of monomorphism. By examining many loci, one can determine the proportion of polymorphic ones among them, i.e. assess the degree of polymorphism, which is an indicator of the genetic diversity of a population.
Heterozygosity. important genetic characteristic population is heterozygosity - the frequency of heterozygous individuals in the population. It also reflects genetic diversity.
Inbreeding coefficient. Using this coefficient, the prevalence of closely related crosses in the population is estimated.
Association of genes. The allele frequencies of different genes can depend on each other, which is characterized by association coefficients.
genetic distances. Different populations differ from each other in the frequency of alleles. To quantify these differences, indicators called genetic distances have been proposed.

population– elementary evolutionary structure. In the range of any species, individuals are distributed unevenly. Areas of dense concentration of individuals are interspersed with spaces where they are few or absent. As a result, more or less isolated populations arise in which random free crossing (panmixia) systematically occurs. Interbreeding with other populations is very rare and irregular. Thanks to panmixia, each population creates a gene pool characteristic of it, different from other populations. It is precisely the population that should be recognized as the elementary unit of the evolutionary process

The role of populations is great, since almost all mutations occur within it. These mutations are primarily associated with the isolation of populations and the gene pool, which differs due to their isolation from each other. The material for evolution is mutational variation, which begins in a population and ends with the formation of a species.

Under the genetic code, it is customary to understand such a system of signs denoting the sequential arrangement of nucleotide compounds in DNA and RNA, which corresponds to another sign system that displays the sequence of amino acid compounds in a protein molecule.

It is important!

When scientists managed to study the properties of the genetic code, universality was recognized as one of the main ones. Yes, strange as it may sound, everything is united by one, universal, common genetic code. It was formed over a long time period, and the process ended about 3.5 billion years ago. Therefore, in the structure of the code, traces of its evolution can be traced, from the moment of its inception to the present day.

When talking about the sequence of elements in the genetic code, it means that it is far from being chaotic, but has a strictly defined order. And this also largely determines the properties of the genetic code. This is equivalent to the arrangement of letters and syllables in words. It is worth breaking the usual order, and most of what we will read on the pages of books or newspapers will turn into ridiculous gibberish.

Basic properties of the genetic code

Usually the code carries some information encrypted in a special way. In order to decipher the code, you need to know the distinguishing features.

So, the main properties of the genetic code are:

• triplet;
• degeneracy or redundancy;
• uniqueness;
• continuity;
• the versatility already mentioned above.

Let's take a closer look at each property.

1. Tripletity

This is when three nucleotide compounds form a sequential chain within a molecule (i.e. DNA or RNA). As a result, a triplet compound is created or encodes one of the amino acids, its location in the peptide chain.

Codons (they are code words!) are distinguished by their connection sequence and by the type of those nitrogenous compounds (nucleotides) that are part of them.

In genetics, it is customary to distinguish 64 codon types. They can form combinations of four types 3 nucleotides each. This is equivalent to raising the number 4 to the third power. Thus, the formation of 64 nucleotide combinations is possible.

2. Redundancy of the genetic code

This property is observed when several codons are required to encrypt one amino acid, usually within 2-6. And only tryptophan can be encoded with a single triplet.

3. Uniqueness

It is included in the properties of the genetic code as an indicator of healthy gene inheritance. For example, the GAA triplet, which is in sixth place in the chain, can tell doctors about a good state of blood, about normal hemoglobin. It is he who carries information about hemoglobin, and it is also encoded by him. And if a person is anemic, one of the nucleotides is replaced by another letter of the code - U, which is a signal of the disease.

4. Continuity

When writing this property of the genetic code, it should be remembered that codons, like chain links, are located not at a distance, but in direct proximity, one after another in the nucleic acid chain, and this chain is not interrupted - it has no beginning or end.

5. Versatility

It should never be forgotten that everything on Earth is united by a common genetic code. And therefore, in a primate and a person, in an insect and a bird, a hundred-year-old baobab and a blade of grass that has barely hatched out of the ground, similar amino acids are encoded in identical triplets.

It is in the genes that the basic information about the properties of an organism is stored, a kind of program that the organism inherits from those who lived earlier and which exists as a genetic code.

The genetic code, which is also called the amino acid code, is a system for recording information about the sequence of amino acids in a protein using the sequence of nucleotide residues in DNA that contain one of the 4 nitrogenous bases: adenine (A), guanine (G), cytosine (C) and thymine (T). However, since the double-stranded DNA helix is ​​not directly involved in the synthesis of the protein that is encoded by one of these strands (i.e. RNA), the code is written in the language of RNA, in which uracil (U) is included instead of thymine. For the same reason, it is customary to say that a code is a sequence of nucleotides, not base pairs.

The genetic code is represented by certain code words - codons.

The first code word was deciphered by Nirenberg and Mattei in 1961. They obtained an extract from E. coli containing ribosomes and other factors necessary for protein synthesis. The result was a cell-free system for protein synthesis, which could assemble a protein from amino acids if the necessary mRNA was added to the medium. By adding synthetic RNA, consisting only of uracils, to the medium, they found that a protein was formed consisting only of phenylalanine (polyphenylalanine). So it was found that the triplet of UUU nucleotides (codon) corresponds to phenylalanine. Over the next 5-6 years, all codons of the genetic code were determined.

The genetic code is a kind of dictionary that translates a text written with four nucleotides into a protein text written with 20 amino acids. The rest of the amino acids found in the protein are modifications of one of the 20 amino acids.

Properties of the genetic code

The genetic code has the following properties.

1. Tripletity Each amino acid corresponds to a triple of nucleotides. It is easy to calculate that there are 4 3 = 64 codons. Of these, 61 are semantic and 3 are meaningless (terminating, stop codons).
2. Continuity(there are no separating characters between nucleotides) - the absence of intragenic punctuation marks;

   Within a gene, each nucleotide is part of a significant codon. In 1961 Seymour Benzer and Francis Crick experimentally proved the triplet code and its continuity (compactness) [show]

   

   The essence of the experiment: "+" mutation - the insertion of one nucleotide. "-" mutation - loss of one nucleotide.

   A single mutation ("+" or "-") at the beginning of a gene or a double mutation ("+" or "-") spoils the entire gene.

   A triple mutation ("+" or "-") at the beginning of a gene spoils only part of the gene.

   A quadruple "+" or "-" mutation again spoils the entire gene.

   The experiment was carried out on two adjacent phage genes and showed that

   1. the code is triplet and there are no punctuation marks inside the gene
   2. there are punctuation marks between genes
3. Presence of intergenic punctuation marks- the presence among the triplets of initiating codons (they begin protein biosynthesis), codons - terminators (indicate the end of protein biosynthesis);

   Conventionally, the AUG codon also belongs to punctuation marks - the first after the leader sequence. It performs the function of a capital letter. In this position, it codes for formylmethionine (in prokaryotes).

   At the end of each gene encoding a polypeptide, there is at least one of 3 termination codons, or stop signals: UAA, UAG, UGA. They terminate the broadcast.

4. Collinearity- correspondence of the linear sequence of mRNA codons and amino acids in the protein.
5. Specificity- each amino acid corresponds only to certain codons that cannot be used for another amino acid.
6. Unidirectional- codons are read in one direction - from the first nucleotide to the next
7. Degeneracy, or redundancy, - one amino acid can be encoded by several triplets (amino acids - 20, possible triplets - 64, 61 of them are semantic, i.e., on average, each amino acid corresponds to about 3 codons); the exception is methionine (Met) and tryptophan (Trp).

   The reason for the degeneracy of the code is that the main semantic load is carried by the first two nucleotides in the triplet, and the third is not so important. From here code degeneracy rule : if two codons have two identical first nucleotides, and their third nucleotides belong to the same class (purine or pyrimidine), then they code for the same amino acid.

   However, from this ideal rule there are two exceptions. These are the AUA codon, which should correspond not to isoleucine, but to methionine, and the UGA codon, which is the terminator, while it should correspond to tryptophan. The degeneracy of the code obviously has an adaptive value.

8. Versatility- all the properties of the genetic code listed above are characteristic of all living organisms.

   codon	Universal code	Mitochondrial codes
   		Vertebrates	Invertebrates	Yeast	Plants
   UGA	STOP	trp	trp	trp	STOP
   AUA	ile	Met	Met	Met	ile
   CUA	Leu	Leu	Leu	Thr	Leu
   AGA	Arg	STOP	Ser	Arg	Arg
   AGG	Arg	STOP	Ser	Arg	Arg

   Recently, the principle of the universality of the code has been shaken in connection with the discovery by Berell in 1979 of the ideal code of human mitochondria, in which the code degeneracy rule is fulfilled. In the mitochondrial code, the UGA codon corresponds to tryptophan and AUA to methionine, as required by the code degeneracy rule.

   Perhaps, at the beginning of evolution, all the simplest organisms had the same code as the mitochondria, and then it underwent slight deviations.

9. non-overlapping- each of the triplets of the genetic text is independent of each other, one nucleotide is part of only one triplet; On fig. shows the difference between overlapping and non-overlapping code.

   In 1976 φX174 phage DNA was sequenced. It has a single stranded circular DNA of 5375 nucleotides. The phage was known to encode 9 proteins. For 6 of them, genes located one after another were identified.

   It turned out that there is an overlap. The E gene is completely within the D gene. Its start codon appears as a result of a one nucleotide shift in the reading. The J gene starts where the D gene ends. The start codon of the J gene overlaps with the stop codon of the D gene by a two-nucleotide shift. The design is called "reading frame shift" by a number of nucleotides that is not a multiple of three. To date, overlap has only been shown for a few phages.

10. Noise immunity- the ratio of the number of conservative substitutions to the number of radical substitutions.

    Mutations of nucleotide substitutions that do not lead to a change in the class of the encoded amino acid are called conservative. Mutations of nucleotide substitutions that lead to a change in the class of the encoded amino acid are called radical.

    Since the same amino acid can be encoded by different triplets, some substitutions in triplets do not lead to a change in the encoded amino acid (for example, UUU -> UUC leaves phenylalanine). Some substitutions change an amino acid to another from the same class (non-polar, polar, basic, acidic), other substitutions also change the class of the amino acid.

    In each triplet, 9 single substitutions can be made, i.e. you can choose which of the positions to change - in three ways (1st or 2nd or 3rd), and the selected letter (nucleotide) can be changed to 4-1 = 3 other letters (nucleotides). Total possible replacements nucleotides - 61 by 9 = 549.

    By direct counting on the table of the genetic code, one can verify that of these: 23 nucleotide substitutions lead to the appearance of codons - translation terminators. 134 substitutions do not change the encoded amino acid. 230 substitutions do not change the class of the encoded amino acid. 162 substitutions lead to a change in the amino acid class, i.e. are radical. Of the 183 substitutions of the 3rd nucleotide, 7 lead to the appearance of translation terminators, and 176 are conservative. Of the 183 substitutions of the 1st nucleotide, 9 lead to the appearance of terminators, 114 are conservative and 60 are radical. Of the 183 substitutions of the 2nd nucleotide, 7 lead to the appearance of terminators, 74 are conservative, and 102 are radical.

Thanks to the process of transcription in a cell, information is transferred from DNA to protein: DNA - i-RNA - protein. The genetic information contained in DNA and mRNA is contained in the sequence of nucleotides in molecules. How does the translation of information from the "language" of nucleotides into the "language" of amino acids take place? This translation is carried out using the genetic code. A code, or cipher, is a system of symbols for translating one form of information into another. The genetic code is a system for recording information about the sequence of amino acids in proteins using the sequence of nucleotides in messenger RNA. How important it is the sequence of the same elements (four nucleotides in RNA) for understanding and preserving the meaning of information can be seen with a simple example: by rearranging the letters in the word code, we get a word with a different meaning - doc. What are the properties of the genetic code?

1. The code is triplet. RNA consists of 4 nucleotides: A, G, C, U. If we tried to designate one amino acid with one nucleotide, then 16 out of 20 amino acids would remain unencrypted. A two-letter code would encode 16 amino acids (from four nucleotides, 16 different combinations can be made, each of which has two nucleotides). Nature has created a three-letter, or triplet, code. This means that each of the 20 amino acids is coded for by a sequence of three nucleotides called a triplet or codon. From 4 nucleotides, you can create 64 different combinations of 3 nucleotides each (4*4*4=64). This is more than enough to encode 20 amino acids and, it would seem, 44 codons are superfluous. However, it is not.

2. The code is degenerate. This means that each amino acid is coded for by more than one codon (two to six). The exceptions are the amino acids methionine and tryptophan, each of which is encoded by only one triplet. (This can be seen from the table of the genetic code.) The fact that methionine is encoded by one triplet OUT has a special meaning, which will become clear to you later (16).

3. The code is unambiguous. Each codon codes for only one amino acid. In all healthy people, in the gene that carries information about the hemoglobin beta chain, the GAA or GAG triplet, I, which is in sixth place, encodes glutamic acid. In patients with sickle cell anemia, the second nucleotide in this triplet is replaced by U. As can be seen from the table, the triplets GUA or GUG, which are formed in this case, encode the amino acid valine. What such a replacement leads to, you already know from the section on DNA.

4. There are "punctuation marks" between genes. In printed text, there is a period at the end of each phrase. Several related phrases make up a paragraph. In the language of genetic information, such a paragraph is an operon and its complementary mRNA. Each gene in the operon encodes one polypeptide chain - a phrase. Since in a number of cases several different polypeptide chains are sequentially created along the mRNA template, they must be separated from each other. For this, there are three special triplets in the genetic code - UAA, UAG, UGA, each of which indicates the cessation of the synthesis of one polypeptide chain. Thus, these triplets perform the function of punctuation marks. They are at the end of every gene. There are no "punctuation marks" inside the gene. Since the genetic code is like a language, let's analyze this property using the example of such a phrase composed of triplets: the cat lived quietly, that cat was angry with me. The meaning of what is written is clear, despite the absence of “punctuation marks. If we remove one letter in the first word (one nucleotide in the gene), but we also read in triples of letters, then we get nonsense: ilb ylk ott ihb yls yls erm ilm no otk occurs when one or two nucleotides are missing from the gene.The protein that will be read from such a damaged gene will have nothing to do with the protein that was encoded by the normal gene.

6. The code is universal. The genetic code is the same for all creatures living on Earth. In bacteria and fungi, wheat and cotton, fish and worms, frogs and humans, the same triplets encode the same amino acids.

Gene- a structural and functional unit of heredity that controls the development of a particular trait or property. Parents pass on a set of genes to their offspring during reproduction. A great contribution to the study of the gene was made by Russian scientists: Simashkevich E.A., Gavrilova Yu.A., Bogomazova O.V. (2011)

Currently, in molecular biology, it has been established that genes are sections of DNA that carry any integral information - about the structure of one protein molecule or one RNA molecule. These and other functional molecules determine the development, growth and functioning of the body.

At the same time, each gene is characterized by a number of specific regulatory DNA sequences, such as promoters, which are directly involved in regulating the expression of the gene. Regulatory sequences can be located either in close proximity to the open reading frame encoding the protein, or the beginning of the RNA sequence, as is the case with promoters (the so-called cis cis-regulatory elements), and at a distance of many millions of base pairs (nucleotides), as in the case of enhancers, insulators and suppressors (sometimes classified as trans-regulatory elements trans-regulatory elements). Thus, the concept of a gene is not limited to the coding region of DNA, but is a broader concept that includes regulatory sequences.

Originally the term gene appeared as a theoretical unit for the transmission of discrete hereditary information. The history of biology remembers disputes about which molecules can be carriers of hereditary information. Most researchers believed that only proteins can be such carriers, since their structure (20 amino acids) allows you to create more options than the structure of DNA, which is composed of only four types of nucleotides. Later, it was experimentally proved that it is DNA that includes hereditary information, which was expressed as the central dogma of molecular biology.

Genes can undergo mutations - random or purposeful changes in the sequence of nucleotides in the DNA chain. Mutations can lead to a change in the sequence, and therefore a change in the biological characteristics of a protein or RNA, which, in turn, can result in a general or local altered or abnormal functioning of the organism. Such mutations in some cases are pathogenic, since their result is a disease, or lethal at the embryonic level. However, not all changes in the nucleotide sequence lead to a change in the protein structure (due to the effect of the degeneracy of the genetic code) or to a significant change in the sequence and are not pathogenic. In particular, the human genome is characterized by single nucleotide polymorphisms and copy number variations. copy number variations), such as deletions and duplications, which make up about 1% of the entire human nucleotide sequence. Single nucleotide polymorphisms, in particular, define different alleles of the same gene.

The monomers that make up each of the DNA chains are complex organic compounds that include nitrogenous bases: adenine (A) or thymine (T) or cytosine (C) or guanine (G), a five-atom sugar-pentose-deoxyribose, named after which and received the name of DNA itself, as well as the residue of phosphoric acid. These compounds are called nucleotides.

Gene Properties

1. discreteness - immiscibility of genes;
2. stability - the ability to maintain a structure;
3. lability - the ability to repeatedly mutate;
4. multiple allelism - many genes exist in a population in a variety of molecular forms;
5. allelism - in the genotype of diploid organisms, only two forms of the gene;
6. specificity - each gene encodes its own trait;
7. pleiotropy - multiple effect of a gene;
8. expressivity - the degree of expression of a gene in a trait;
9. penetrance - the frequency of manifestation of a gene in the phenotype;
10. amplification - an increase in the number of copies of a gene.

Classification

1. Structural genes are unique components of the genome, representing a single sequence encoding a specific protein or some types of RNA. (See also the article genes household).
2. Functional genes - regulate the work of structural genes.

Genetic code- a method inherent in all living organisms to encode the amino acid sequence of proteins using a sequence of nucleotides.

Four nucleotides are used in DNA - adenine (A), guanine (G), cytosine (C), thymine (T), which in Russian-language literature are denoted by the letters A, G, C and T. These letters make up the alphabet of the genetic code. In RNA, the same nucleotides are used, with the exception of thymine, which is replaced by a similar nucleotide - uracil, which is denoted by the letter U (U in Russian-language literature). In DNA and RNA molecules, nucleotides line up in chains and, thus, sequences of genetic letters are obtained.

Genetic code

There are 20 different amino acids used in nature to build proteins. Each protein is a chain or several chains of amino acids in a strictly defined sequence. This sequence determines the structure of the protein, and therefore all of its biological properties. The set of amino acids is also universal for almost all living organisms.

The implementation of genetic information in living cells (that is, the synthesis of a protein encoded by a gene) is carried out using two matrix processes: transcription (that is, the synthesis of mRNA on a DNA template) and translation of the genetic code into an amino acid sequence (synthesis of a polypeptide chain on mRNA). Three consecutive nucleotides are enough to encode 20 amino acids, as well as the stop signal, which means the end of the protein sequence. A set of three nucleotides is called a triplet. Accepted abbreviations corresponding to amino acids and codons are shown in the figure.

Properties

1. Tripletity- a significant unit of the code is a combination of three nucleotides (triplet, or codon).
2. Continuity- there are no punctuation marks between the triplets, that is, the information is read continuously.
3. non-overlapping- the same nucleotide cannot be part of two or more triplets at the same time (not observed for some overlapping genes of viruses, mitochondria and bacteria that encode several frameshift proteins).
4. Unambiguity (specificity)- a certain codon corresponds to only one amino acid (however, the UGA codon in Euplotes crassus codes for two amino acids - cysteine ​​and selenocysteine)
5. Degeneracy (redundancy) Several codons can correspond to the same amino acid.
6. Versatility- the genetic code works the same way in organisms different levels complexity - from viruses to humans (genetic engineering methods are based on this; there are a number of exceptions, shown in the table in the section "Variations of the standard genetic code" below).
7. Noise immunity- mutations of nucleotide substitutions that do not lead to a change in the class of the encoded amino acid are called conservative; nucleotide substitution mutations that lead to a change in the class of the encoded amino acid are called radical.

Protein biosynthesis and its steps

Protein biosynthesis- a complex multi-stage process of synthesis of a polypeptide chain from amino acid residues, occurring on the ribosomes of cells of living organisms with the participation of mRNA and tRNA molecules.

Protein biosynthesis can be divided into stages of transcription, processing and translation. During transcription, the genetic information encrypted in DNA molecules is read and this information is written into mRNA molecules. During a series of successive stages of processing, some fragments that are unnecessary in subsequent stages are removed from mRNA, and the nucleotide sequences are edited. After the code is transported from the nucleus to the ribosomes, the actual synthesis of protein molecules occurs by attaching individual amino acid residues to the growing polypeptide chain.

Between transcription and translation, the mRNA molecule undergoes a series of successive changes that ensure the maturation of a functioning template for the synthesis of the polypeptide chain. A cap is attached to the 5' end, and a poly-A tail is attached to the 3' end, which increases the lifespan of the mRNA. With the advent of processing in a eukaryotic cell, it became possible to combine gene exons to obtain a greater variety of proteins encoded by a single DNA nucleotide sequence - alternative splicing.

Translation consists in the synthesis of a polypeptide chain in accordance with the information encoded in messenger RNA. The amino acid sequence is arranged using transport RNA (tRNA), which form complexes with amino acids - aminoacyl-tRNA. Each amino acid has its own tRNA, which has a corresponding anticodon that “matches” the mRNA codon. During translation, the ribosome moves along the mRNA, as the polypeptide chain builds up. Energy for protein synthesis is provided by ATP.

Finished protein molecule then it is cleaved off from the ribosome and transported to the right place in the cell. Some proteins require additional post-translational modification to reach their active state.