What is meant by genotype and phenotype. The history of these concepts

The genotype is the totality of all the genes of an organism, which are its hereditary basis. Phenotype - the totality of all the signs and properties of the organism, which are revealed in the process of individual development under given conditions and are the result of the interaction of the genotype with a complex of factors of the internal and external environment. The phenotype in the general case is what can be seen (color of the cat), heard, felt (smell), as well as the behavior of the animal. In a homozygous animal, the genotype matches the phenotype, but in a heterozygous animal it does not. Each species has its own unique phenotype. It is formed in accordance with the hereditary information embedded in the genes. However, depending on changes in the external environment, the state of signs varies from organism to organism, resulting in individual differences - variability. 45. Cytogenetic monitoring in animal husbandry.

The organization of cytogenetic control should be based on a number of basic principles. 1. It is necessary to organize a rapid exchange of information between institutions dealing with issues of cytogenetic control, for this purpose it is necessary to create a single data bank that would include information about carriers of chromosomal pathology. 2. inclusion of information about the cytogenetic characteristics of the animal in breeding documents. 3. The purchase of semen and breeding material from abroad should be carried out only in the presence of a cytogenetic certificate.

Cytogenetic examination in the regions is carried out using information on the prevalence of chromosomal abnormalities in breeds and lines:

1) breeds and lines in which cases of chromosomal pathology transmitted by inheritance are registered, as well as descendants of carriers of chromosomal abnormalities in the absence of a cytogenetic passport on them;

2) breeds and lines not previously studied cytogenetically;

3) all cases of mass reproduction disorders or genetic pathology of an unclear nature.

First of all, sires and males intended for herd repair, as well as breeding young animals of the first two categories, are subject to examination. Chromosomal aberrations can be divided into two large classes: 1. constitutional - inherent in all cells, inherited from parents or arising in the process of gamete maturation, and 2. somatic - arising in individual cells during ontogenesis. Taking into account the genetic nature and phenotypic manifestation of chromosomal abnormalities, animals carrying them can be divided into four groups: 1) carriers of inherited anomalies with a predisposition to a decrease in reproductive qualities by an average of 10%. Theoretically, 50% of offspring inherit the pathology. 2) carriers of inherited anomalies, leading to a pronounced decrease in reproduction (30-50%) and congenital pathology. About 50% of offspring inherit the pathology.

3) Animals with de novo anomalies leading to congenital pathology (monosomy, trisomy and polysomy in the system of autosomes and sex chromosomes, mosaicism and chimerism). In the vast majority of cases, these animals are sterile. 4) Animals with increased karyotype instability. Reproductive function is reduced, hereditary predisposition is possible.

46. ​​pleiotropy (multiple action of genes) Pleiotropic action of genes is the dependence of several traits on one gene, that is, the multiple action of one gene. The pleiotropic effect of a gene can be primary or secondary. In primary pleiotropy, the gene exhibits its multiple effect. In secondary pleiotropy, there is one primary phenotypic expression of a gene, followed by a stepwise process of secondary changes leading to multiple effects. In pleiotropy, a gene, acting on one main trait, can also change, modify the manifestation of other genes, and therefore the concept of modifier genes has been introduced. The latter enhance or weaken the development of traits encoded by the "main" gene. Indicators of the dependence of the functioning of hereditary inclinations on the characteristics of the genotype are penetrance and expressivity. Considering the action of genes, their alleles, it is necessary to take into account the modifying influence of the environment in which the organism develops. Such a fluctuation of classes during splitting depending on environmental conditions is called penetrance - the strength of phenotypic manifestation. So, penetrance is the frequency of gene manifestation, the phenomenon of the appearance or absence of a trait in organisms that are identical in genotype. Penetrance varies considerably among both dominant and recessive genes. It can be complete, when the gene appears in 100% of cases, or incomplete, when the gene does not appear in all individuals containing it. Penetrance is measured by the percentage of organisms with a phenotypic trait out of the total number of examined carriers of the corresponding alleles. If a gene completely, regardless of the environment, determines the phenotypic expression, then it has a penetrance of 100 percent. However, some dominant genes appear less regularly.

Multiple or pleiotropic effects of genes are associated with the stage of ontogeny at which the corresponding alleles appear. The earlier the allele appears, the greater the effect of pleiotropy.

Given the pleiotropic effect of many genes, it can be assumed that some genes often act as modifiers for the action of other genes.

47. modern biotechnologies in animal husbandry. The use of selection. - genetic. value (art. axes; transp. Fetus).

A phenotype is a set of genetic traits adapted to certain environmental conditions in which a person constantly lives. On the basis of this concept, a definition of a race is constructed as a population whose members have common external phenotypic features by which they can be identified.

Types of racial phenotypes

In the scientific world, a variety of race classifications are used depending on the region where the population lives. The most common is the following division:

  • Australoid race - the indigenous population of Australia and nearby island territories (Oceania).
  • The Americanoid (or "Amerindians") are the indigenous people of North and South America.
  • Caucasoid - the indigenous population of Europe and adjacent countries, whose inhabitants have dominant phenotypic characteristics characteristic of this race.
  • Mongoloid - indigenous people of the Far East, Asia, Siberia.
  • Negroid - the indigenous population of Africa and the peoples living in the neighborhood, marked by Negroid phenotypic characteristics.

Within each race, there are subspecies / groups - depending on the place of residence within a particular region. However, only specialists can find differences between representatives of different groups.

But everyone can determine the basic racial phenotype by the main external features. The main thing is to know how the appearance of people from different phenotypic groups differs.

External differences in racial phenotypes

The racial identity of a person can be determined by the following characteristics:

  • facial features,
  • eyes,
  • hair,
  • leather.

Accordingly, the key differences in the appearance of the representatives of the races will be as follows:

Phenotypic traits

Facial features

australoid

A large nose with a short bridge, massive brow ridges, powerful jaws, large teeth.

Dark color.

Soft, wavy, sometimes curly. Vegetation on the body is highly developed.

Light or dark brown.

Americanoid

The face is large and tall. The lower jaw is wide. The nose is often "eagle", with a long bridge. The mouth is also wide. Vegetation on the face is weakly expressed.

Dark. The palpebral fissure is wider than that of the representatives of the Mongoloid race, but narrower than that of Europeans.

Dark, straight. Less often - wavy.

Caucasoid

The nose is narrow, sharply protruding. Lips are medium in thickness. Men have facial hair.

Southerners have darker eyes. The northerners have a lighter one. Wide eye slit.

Soft, wavy or straight. The inhabitants of the southern regions have darker ones. The northern ones are lighter.

The skin is light and very light.

Mongoloid

Vegetation on the face (as well as on the whole body) is weak. The face is flattened. The nose protrudes weakly. But the cheekbones stand out well.

Dark. The eyes are narrow. The inner corner of the eye has an additional fold of skin.

Black, straight.

Has a yellowish tint.

Negroid

Jaws protrude forward. Lips are thick. The nose is wide and flat.

Brown. Wide eye slit.

Rigid, strongly curled in a spiral.

Dark brown, black.

At the same time, it should be understood that the above applies specifically to the indigenous inhabitants of certain corners of the planet.

However, globalization has been successfully taking place in the world for many decades, erasing the boundaries between states, continents, contributing to the resettlement of people, the assimilation of some peoples with others. Because of this, the differences between races are not so bright. Phenotypes appear with features characteristic of different populations. In addition, people with the help of plastic surgery, cosmetics, hairdressers have learned to radically change their appearance. Therefore, sometimes it is quite difficult to accurately determine racial affiliation even by the described characteristics.


The genotype is the totality of all the genes of an organism, which are its hereditary basis.

Phenotype - the totality of all the signs and properties of the organism, which are revealed in the process of individual development under given conditions and are the result of the interaction of the genotype with a complex of factors of the internal and external environment.

The phenotype in the general case is what can be seen (color of the cat), heard, felt (smell), as well as the behavior of the animal. We agree that we will consider the phenotype only in terms of color.

As for the genotype, it is most often spoken of, meaning a certain small group of genes. For now, let's assume that our genotype consists of only one gene. W(in the following paragraphs, we will sequentially add other genes to it).

In a homozygous animal, the genotype matches the phenotype, but in a heterozygous animal it does not.

Indeed, in the case of the genotype WW, both alleles are responsible for the white color, and the cat will be white. Similarly www- both alleles are responsible for non-white color, and the cat will be non-white.

But in the case of the genotype www the cat will be externally (phenotypically) white, but in its genotype it will carry a recessive allele of a non-white color w .

Each species has its own unique phenotype. It is formed in accordance with the hereditary information embedded in the genes. However, depending on changes in the external environment, the state of signs varies from organism to organism, resulting in individual differences - variability.

Based on the variability of organisms, a genetic diversity of forms appears. There are modification variability, or phenotypic, and genetic, or mutational.

Modification variability does not cause changes in the genotype, it is associated with the reaction of a given, one and the same genotype to a change in the external environment: under optimal conditions, the maximum possibilities inherent in a given genotype are revealed. Modification variability is manifested in quantitative and qualitative deviations from the original norm, which are not inherited, but are only adaptive in nature, for example, increased pigmentation of human skin under the influence of ultraviolet rays or development of the muscular system under the influence of physical exercises, etc.

The degree of variation of a trait in an organism, that is, the limits of modification variability, is called the reaction norm. Thus, the phenotype is formed as a result of the interaction of the genotype and environmental factors. Phenotypic traits are not transmitted from parents to offspring, only the norm of reaction is inherited, that is, the nature of the response to changes in environmental conditions.
Genetic variability is combinative and mutational.

Combinative variability arises as a result of the exchange of homologous regions of homologous chromosomes during meiosis, which leads to the formation of new gene associations in the genotype. Occurs as a result of three processes:

1) independent divergence of chromosomes during meiosis;
2) their accidental connection during fertilization;
3) exchange of sections of homologous chromosomes or conjugation.

mutational variability. Mutations are called spasmodic and stable changes in units of heredity - genes, entailing changes in hereditary traits. They necessarily cause changes in the genotype that are inherited by offspring and are not associated with crossing and recombination of genes.
There are chromosomal and gene mutations. Chromosomal mutations are associated with changes in the structure of chromosomes. This may be a change in the number of chromosomes that is a multiple or not a multiple of the haploid set (in plants - polyploidy, in humans - heteroploidy). An example of heteroploidy in humans can be Down syndrome (one extra chromosome and 47 chromosomes in the karyotype), Shereshevsky-Turner syndrome (one X chromosome is missing, 45). Such deviations in the human karyotype are accompanied by a health disorder, a violation of the psyche and physique, a decrease in vitality, etc.

Gene mutations - affect the structure of the gene itself and entail a change in the properties of the body (hemophilia, color blindness, albinism, etc.). Gene mutations occur in both somatic and germ cells.
Mutations that occur in germ cells are inherited. They are called generative mutations. Changes in somatic cells cause somatic mutations that spread to that part of the body that develops from the changed cell. For species that reproduce sexually, they are not essential, for vegetative reproduction of plants they are important.

There are two very important concepts in genetics. These are concepts genotype and phenotype. We already know that the hereditary constitution is made up of a large number of different genes. The totality of the genes of an organism is called its genotype , that is, the concept of the genotype is identical to the concept of the genetic constitution. Each person receives his genotype (set of genes) at the moment of conception and carries it without any changes throughout his life. The activity of genes may change, but their composition remains unchanged.

From concept genotype another similar concept should be distinguished - genome. Genome the set of genes characteristic of the haploid set of chromosomes of an individual of a given species is called. Unlike the genotype, the genome is a characteristic of the species, not of the individual.
Phenotype represents any manifestation of the body at every moment of its life. The phenotype includes both appearance, and internal structure, and physiological reactions, and any forms of behavior observed at the current moment.

For example, the already mentioned blood groups of the AB0 system are an example of a phenotype at the physiological and biochemical level. Although at first glance it seems to many that the blood type is a genotype, since it is clearly determined by the action of genes and does not depend on the environment, however, this is only a manifestation of the action of genes, and therefore should be classified as phenotypes. Recall that representatives of blood groups A or B can have different genotypes (homozygous and heterozygous).

Complex phenotypes are all behavioral manifestations. For example, the handwriting that distinguishes a given individual is its behavioral manifestation and also belongs to the category of phenotypes. If the blood type does not change during life, then the handwriting undergoes significant changes as the writing skill is trained.

If a genotypes are inherited and remain unchanged throughout the life of the individual, then phenotypes for the most part they are not inherited - they develop and are the result of our genotypes only to a certain extent, since environmental conditions play a large role in the formation of phenotypes.

The whole process of development from a fertilized egg to an adult organism occurs not only under the continuous regulatory influence of the genotype, but also under the influence of many different environmental conditions in which the growing organism is located. Therefore, the extraordinary variability inherent in living organisms is due not only to the huge variety of genotypes that arise as a result of gene recombination and the mutation process, but to a large extent due to the fact that individual individuals develop in different environmental conditions.

For a long time there has been a controversy about what is more important for the formation of an organism - the environment or the genetic constitution. Particularly sharp disputes flare up where the matter concerns human behavior, its psychological characteristics - temperament, mental abilities, personality traits. It is no coincidence that research in the field of human genetics began precisely with the question of the nature of mental giftedness. F. Galton was the first in a scientific treatise to put two concepts side by side, which in one form or another do not leave the pages of scientific literature to this day. These are concepts - "nature and nurture", that is, "nature and conditions of education."


geneticists, and behavioral geneticists in particular, are often reproached for denying the role of the environment. However, this accusation is completely unfounded. One of the main postulates of genetics is the thesis that phenotype is the result of the interaction of the genotype and the environment. In the process of this interaction, that variety of phenotypic manifestations arises, which is characteristic of most human traits that belong to the category of quantitative and form a continuous series of variability.

Today, specialists pay special attention to phenotypology. They are able to “bite” a person in a matter of minutes and tell a lot of useful and interesting information about him.

Phenotype features

The phenotype is all the characteristics as a whole that are inherent in an individual at a certain stage of his development. Thus, we can safely say that the phenotypes of a person throughout his life can change.

Each trait or characteristic of a living being that is observed determines the phenotype of a person. Signs of a phenotype are the features of a person:

  • development;
  • morphology;
  • physiological characteristics;
  • biochemical properties;
  • behavior, etc.

Phenotypes are initially formed under the influence of the genotype. Environmental factors also play a role. The phenotype also includes clinically determined factors:

  • growth;
  • blood type;
  • hair color and type;
  • eye color.

Phenotypology

Phenotypology is a relatively new science that is able to conduct an express diagnosis of a person's character according to his external signs.

We can safely say that the phenotype is the appearance of genetics. A person who has mastered phenotypology can quickly and easily read many of his personality traits and character on a person’s face.

Phenotypology is a "powerful weapon" that is useful to every person in the business industry, sales, education, etc.

Phenotypology is a science that talks about the relationship of psychophysiological and psychophysical characteristics in human behavior, based on the individual characteristics of the personality phenotype.

A phenotype is all the features of a biological individual at a particular moment in his life. Formation occurs with the participation of the genotype under the influence of the environment. Thus, the phenotype is a different realization of the genotype in each case.

The author of phenotypology, Mark Luchini, identified about 140 main features of the phenotype. Various experts count them up to 10 to the 30th degree. This shows that each person is an individual. Now we can safely say that the ratio of phenotypes can be different.

A full range of skills and knowledge in phenotypology can be mastered in a training course from 30 to 55 academic hours.

Possibilities of phenotypology

In 4 minutes, a person trained in phenotypology can determine the following character traits:

  • orientation and degree of mania;
  • limits, perspectives and orientation of the genetic potential of intelligence;
  • characteristics of sexuality, given the tendency to perversion or carnivorous sensations;
  • moral characteristics of a person (honesty, meanness, devotion, deceit, duplicity, etc.);
  • the genetic propensity of a person to non-standard actions, taking into account criminality;
  • the will of a person (the ability to resist aggression, defend one's point of view, etc.);
  • propensity for heroism and extravagant deeds (taking into account the propensity for murder, heroism, suicide, etc.);
  • threshold of irritability, quality of the nervous system;
  • a penchant for moralism;
  • incapacity, capacity;
  • cowardice, courage, secrecy;
  • stubbornness;
  • thirst for authority, preoccupation with their appearance;
  • attentiveness, suspicion, insight;
  • practical, commercial, predatory and business inclinations;
  • and so on, for a total of 140 qualities

The degree of accuracy of the results after the work of specialists is 80-95%.

Is knowledge about phenotypes necessary?

In fact, knowledge of phenotypology is necessary for every person. After all, we live in a society, which means that we are constantly surrounded by society.

Where is the knowledge of phenotypology especially important?

  1. Various personnel audits, including people who have a high degree of access to important, classified information.
  2. Sales, negotiations, communication and purchases.
  3. Criminalistics.
  4. Upbringing.
  5. Social and political sphere.
  6. Analysis of historical figures.
  7. Deciphering the deeds of people who have already died.
  8. Development of a stage image of various literary heroes.
  9. Selection of a competent image.
  10. Psychological makeup.

Conclusion

A phenotype is a set of all characteristics that are inherent in an individual at a certain stage of development. Knowledge of the phenotype makes it possible to characterize a person and his character traits in the shortest possible time.