The study of the degree of heritability of various morphological and functional indicators of the human body showed that genetic influences on them are extremely diverse. They differ in terms of detection, degree of impact, stability of manifestation (Sologub E.B., Taymazov V.A., 2000).

The greatest hereditary conditionality was revealed for morphological parameters, the smallest - for physiological parameters and the smallest - for psychological signs.(Shvarts V.B., 1991 and others).

Among morphological features the most significant effects of heredity on the longitudinal dimensions of the body, smaller - on volumetric dimensions, even smaller - on body composition (Nikityuk B.A., 1991).

Studies have shown (Korobko T.V., Savostyanova E.B., 1974), the value of the coefficient of heritability is the highest for bone tissue, less for muscle and the lowest for fat; for the subcutaneous tissue of the female body, it is especially small (Table 5.3). With age, environmental influences increase, especially on the fat component (Table 5.4).

Table 5.3

The role of the genetic factor (H) in the development of body components, %

Table 5.4

Age-related changes in genetic influences (H) on body components, %

For functional indicators a significant genetic conditionality of many physiological parameters has been revealed, among which are: the metabolic characteristics of the organism; aerobic and anaerobic capacity; the volume and size of the heart, the value of ECG indicators, systolic and minute blood volume at rest, heart rate during physical exertion, blood pressure; vital capacity (VC) and vital indicator (VC/kg), frequency and depth of breathing, minute volume of breathing, duration of breath holding on inhalation and exhalation, partial pressure of O and CO in alveolar air and blood; blood cholesterol, erythrocyte sedimentation rate, blood groups, immune status, hormonal profile, and some others (Table 5.5).

Table 5.5

Indicators of the influence of heredity (H) on some morphological and functional characteristics of the human body (Shvarts V.B., 1972; Tishina V.G., 1976; Kots Ya.M., 1986; Ravich-Shcherbo I.V., 1988; Aizenk G. Yu., 1989; Moskatova A.K., 1992, etc.)

Morphofunctional features	Heritability index (N)
Body length (height)
Body weight (weight)
Fat fold
Volume of circulating blood
The concentration of erythrocytes and hemoglobin
Leukocyte concentration
Acid-base balance (pH) at rest and at work
Erythrocyte sedimentation rate (ESR)
Phagocytic activity of leukocytes
Absolute level of immunoglobulins
Heart volume
ECG indicators
Duration of P, R waves, R-R intervals
Minute blood volume (L/min)
Stroke volume (ml)
Heart rate at rest (bpm)
Heart rate at work (bpm)
Systolic blood pressure at rest and at work
Diastolic blood pressure at rest and at work
Vital capacity (VC)
Vital indicator (VC/kg)
Resting minute volume
Minute breathing volume at work
Maximum ventilation
Depth of breathing at rest
Respiratory rate at rest
Oxygen consumption at rest
Oxygen consumption during operation
Maximum Oxygen Consumption (MPC)
Relative value of the IPC (ml / min / kg)
Maximum anaerobic power (MAM)
Holding breath while inhaling
The percentage of slow fibers in the muscles of men
The percentage of slow fibers in the muscles of women
Development of conditioned reflexes
mental performance
Frequency-amplitude indicators of the EEG

Many psychological, psychophysiological, neurodynamic, sensory-motor indicators, characteristics of sensory systems are also under pronounced genetic control.: most of the amplitude, frequency and index indicators of the EEG (especially alpha rhythm), statistical parameters of the mutual transitions of waves on the EEG, the speed of information processing (brain capacity); motor and sensory functional asymmetry, dominance of the hemispheres, temperament, intelligence quotient (IQ); sensitivity thresholds of sensory systems; differentiation of color vision and its defects (color blindness), normal and far-sighted refraction, critical frequency of light flicker fusion, etc.

The general conclusion of all the studies was the conclusion that the more complex the behavioral activity of a person, the less pronounced the influence of the genotype and the greater the role of the environment. For example, for simpler motor skills, the genetic factor is more important than for more complex skills (Sologub E.B., Taymazov V.A., 2000).

Most of the behavioral acts are controlled by a whole complex of genes, but there may be fewer of them. So, in experiments on animals, only two genes that affect motility (cause degenerative changes in motor neurons) have been isolated (Sendter M. et al, 1996); four genes have been described that sharply increase the aggressiveness of behavior (Tecott L.H., Barondes S.H., 1996).

It turned out that in the course of ontogenesis, the role of the hereditary factor decreases. So, long-term longitudinal studies on twins (at the age of 11, 20-30 and 35-40 years old) showed that some signs lose their similarity with age even in identical twins, i.e. environmental factors become more and more important. This is due to the fact that as a person enriches himself with life experience and knowledge, the relative role of the genotype in his life activity decreases.

Found some differences in inheritance of traits by sex. In men, left-handedness, color blindness, ventricular volume and heart size, a tendency to increase or decrease blood pressure, the synthesis of lipids and cholesterol in the blood, the nature of fingerprints, characteristics of sexual development, the ability to solve digital and abstract problems, orientation in new situations are inherited to a greater extent. . In women, the height and weight of the body, the development and timing of the onset of motor speech, and the manifestations of functional symmetry of the cerebral hemispheres are genetically programmed to a greater extent.

Genetic factors play an important role in deviations from normal human behavior. So, in bisexuals and homosexuals, sexual behavior is not only the result of certain living conditions (army, prison, etc.), but also (in approximately 1-6% of the population) - heredity. In girls with different genetic anomalies, a special boyish behavior is also described (tomboyism syndrome; from the English. That boy - “boy Tom”).

Manifestations mental retardation, weaknesses in spatial perception, low school performance in some cases are due to defects in the genetic apparatus: in diseases associated with a change in the number of sex chromosomes (for example, XO, XXX, XXY, etc.), in the presence of a “fragile” X chromosome in women (1 :700 cases), etc.

Individuals with a set of sex chromosomes XYY have reduced intelligence and a tendency to aggressive behavior, violence and crime. The proportion of criminals among them is reliable (p< 0,01) выше (41,7% случаев), чем среди лиц с нормальным набором хромосом - XY (9,3%). Однако, несмотря на многочисленные работы по генетике человека, для окончательного суждения о роли генотипа в жизнедеятельности еще очень мало данных.

Hereditary influences on various physical qualities are not of the same type. They manifest themselves in varying degrees of genetic dependence and are found at various stages of ontogeny.

Rapid movements are most subject to genetic control., which require, first of all, special properties of the nervous system: high lability (speed of the nerve impulse) and mobility of nervous processes (the ratio of excitation and inhibition and vice versa), as well as the development of anaerobic capabilities of the body and the presence of fast fibers in skeletal muscles.

For various elementary manifestations of the quality of speed, high heritability rates were obtained (Table 5.6). With the help of twin and genealogical methods, a high dependence on innate properties (H = 0.70-0.90) of indicators of high-speed sprinting, tapping test, short-term pedaling on a bicycle ergometer at a maximum pace, long jumps from a place and other high-speed and speed-strength exercises.

Table 5.6

P influencers of heredity (H) on the physical qualities of a person (Moskatova A.K., 1983 and others)

Indicators	Heritability coefficient (N)
motor reaction speed
Tapping test
Speed ​​of elementary movements
Sprint speed
Maximum static force
Explosive power
Hand coordination
Joint mobility (flexibility)
Local muscle endurance
General Endurance

However, different methodological conditions of surveys, insufficient consideration of population, sex and age differences, lack of uniformity in the tests used lead to a noticeable spread in the values ​​of indicators for different authors. For example, the variations in the heritability coefficient (Н2) of many speed characteristics of motor reactions, according to various researchers, for the tapping test are 0.00-0.87; the time of a simple motor reaction to visual stimuli -0.22-0.86; response time to sound stimuli - 0.00-0.53; frequency of running on the spot - 0.03-0.24; hand movement speed -0.43-0.73. The coefficients of heritability of indicators of speed-strength tests also have noticeable variations: 60-meter run -0.45-0.91; long jump - 0.45-0.86; high jump -0.82-0.86; shot put - 0.16-0.71 (Ravich-Shcherbo I.V., 1988).

High genetic conditioning obtained for the quality of flexibility. Flexibility of the spinal column - 0.7-0.8; mobility of the hip joints - 0.70, shoulder joints - 0.91.

To a lesser extent, genetic influences are expressed for indicators of absolute muscle strength.. So, for example, the coefficients of heritability for the dynamometric indicators of the strength of the right hand - H = 0.61, the left hand - H = 0.59, the backbone strength - H = 0.64, and for the time indicators of a simple motor reaction H = 0.84, complex motor reaction H = 0.80. According to different authors, heritability rates for muscle strength of the hand flexors vary within 0.24-0.71, forearm flexors - 0.42-0.80, trunk extensors - 0.11-0.74, leg extensors - 0, 67-0.78.

To the least extent, heritability is found for indicators of endurance to long-term cyclic work and the quality of dexterity.(coordination capabilities and the ability to form new motor acts in unusual conditions).

In other words, the most trainable physical qualities are agility and general endurance, while the least trained physical qualities are speed and flexibility. The middle position is occupied by the quality of strength.

This is confirmed by the data of N.V. Zimkina (1970) and others about the degree of growth of various physical qualities in the process of many years of sports training. The values ​​of speed quality indicators (in sprinting, swimming 25 and 50 m) increase by 1.5-2 times; the quality of strength during the work of local muscle groups - 3.5-3.7 times; with global work - by 75-150%; quality endurance - dozens of times.

Manifestations of genetic influences on physical qualities depend on:

1. ­ age. More pronounced at a young age (16-24 years) than in adults;
2. ­ work power. Influences increase with an increase in the power of work;
3. ­ period of ontogenesis. There are different periods for different qualities.

In the process of ontogenesis, as noted above, critical and sensitive periods are distinguished.

Critical and sensitive periods coincide only partially. If critical periods create a morphofunctional basis for the existence of an organism in new conditions of life activity (for example, during the transitional period in a teenager), then sensitive periods realize these opportunities, ensuring adequate functioning of the body systems in accordance with the new environmental requirements. The moments of their switching on and off during certain periods of ontogeny are very similar in identical twins, which demonstrates the genetic basis for the regulation of these processes.

Sensitive periods for various qualities appear heterochronously. Although there are individual options for the timing of their onset, it is still possible to identify general patterns. Thus, the sensitive period of manifestation of various indicators of the quality of speed falls on the age of 11-14 years, and by the age of 15 its maximum level is reached, when high sports achievements are possible. At this level, speed can last up to 35 years, after which the speed properties of the body decrease. A picture close to this is observed in ontogenesis and for the manifestation of the qualities of dexterity and flexibility.

Somewhat later, a sensitive period of the quality of strength is noted. After a relatively small rate of annual strength gains in preschool and primary school age, there is a slight slowdown at the age of 11-13 years. Then comes the sensitive period of development of muscle strength at the age of 14-17, when the increase in strength in the process of sports training is especially significant. By the age of 18-20 years in boys (in girls 1-2 years earlier) the maximum manifestation of the strength of the main muscle groups is achieved, which lasts up to about 45 years. Then muscle strength decreases.

The sensitive period of endurance is approximately 15-20 years, after which there is its maximum manifestation and record achievements at stayer distances in running, swimming, rowing, cross-country skiing and other sports that require endurance. General endurance (long-term work of moderate power) persists in human ontogenesis longer than other physical qualities, decreasing after 55 years.

Note. Associated with this is the greatest adequacy of long-term dynamic work of low power for the elderly, who are able to perform this kind of exercise without regard to time for a sufficiently long time.

In the practice of sports, the role of family heredity is known. According to P. Astrand, in 50% of cases, the children of outstanding athletes have pronounced athletic abilities. Many brothers and sisters show high results in sports (mother and daughter Deryugina, brothers Znamensky, sisters Press, etc.). If both parents are outstanding athletes, then high results in their children are likely in 70% of cases.

Back in 1933, I. Frischeisen-Kohler showed that indicators of the speed of performing a tapping test have a pronounced intrafamilial heritability (cited by Ravich-Shcherbo I.V., 1988). If both parents were in the “fast” group according to the tapping test, then among the children of such parents there were significantly more “fast” (56%) than “slow” (only 4%). If both parents turned out to be “slow”, then among the children “slow” prevailed (71%), and the rest were “average” (29%).

It turned out that intra-family similarity depends on the nature of the exercises, the characteristics of the population, and the birth order of the child in the family. Closer intra-family relationships are inherent in speed, cyclic and speed-strength exercises. A study of archives in English closed colleges, where children of selected families traditionally studied, showed a certain similarity in the motor abilities of children and parents at the age of 12. A significant correlation was established for some morphological features and speed-strength exercises: body length (p = 0.50), 50-yard run (p - 0.48), standing long jump (p = 0.78). However, there was no correlation for complex coordination movements, such as throwing a tennis ball, gymnastic exercises.

Many family features of various body functions were studied.

Studies of changes in pulmonary ventilation in response to lack of oxygen (hypoxia) and excess carbon dioxide (hypercapnia) in adult long distance runners have shown that the respiratory responses of fit runners and their non-athletic relatives were almost the same. At the same time, they significantly differed from more significant shifts in pulmonary ventilation in the control group of people not involved in sports (Scoggin S. N. et al., 1978).

Some conflicting data of an intrafamily study of morphological traits of genetics are explained by the influence of population characteristics (Sergienko L.P., 1987).

For example, there are differences in the nature of intrafamilial genetic influences on DT in different populations: in the American population, the highest relationship was found in mother-daughter pairs, then its decrease in mother-son, father-son, father-daughter pairs; in the African population, the decrease in correlation was noted in a different order: from the father-son pair to the mother-son, mother-daughter, and father-daughter pairs.

G. Eysenck (1989) reported on intra-family relationships in relation to mental performance (in terms of intelligence quotient - IQ). In terms of the speed of solving intellectual problems, the indicators of adopted children corresponded to the mental abilities of their biological parents, but not the adoptive ones. These facts testified to the hereditary nature of these abilities, which are of great importance for the effectiveness of tactical thinking in athletes.

At the same time, it was found that the order of birth of children in the family affects the value of intellectual potential. In families with one to three children, intellectual abilities are on average quite high. In families with many children (four to nine children or more), these abilities decrease for each next child (Belmont L, Marolla F. A., 1973). The natural decrease in mental performance (determined by indicators of perception and processing of information and other tests) did not depend on the social origin of the examined persons (Fig. 54). It is believed that one of the reasons may be a violation with age of the usefulness of the reproductive function in women. The birth order of children also influences changes in indicators of responsibility and dominance, which decrease from older boys to younger ones (Harris K.A., Morrow K.B., 1992).

Researchers especially emphasize the intellectual advantages of the first-born. Statistics show that among the famous, the most famous people and outstanding scientists, they make up the majority. When analyzing the composition of hormones in the blood taken from the umbilical cord of newborn boys and girls, a predominance of female sex hormones (progesterone and estrogen) was found in firstborns of both sexes compared to younger children, and among boys - a greater amount of male sex hormone (testosterone) in firstborns, than their younger brothers. Next, a hypothesis was put forward about a direct connection between the mental development of a person and the genetically specified content of sex hormones (Brothers D., 1994).

In families formed by close relatives, genetic influences have a negative effect. As a result of the analysis of marriages of cousins ​​and brothers, a decrease in the mental abilities of their children was established.

Rice. 54. Intellectual abilities in children in families of three social groups, depending on the order of birth of the child (according to Belmont L, Marolla E, 1973): 1 - group of mental labor (n = 137823); 2 - physical labor (n = 184334); 3 - farmers (n = 45196).

(The test scale of intellectual abilities is located along the ordinate axis: 1.0 - maximum, 6.0 - minimum).

Many morphological and functional traits that determine a person's athletic abilities and are inherited from parents to children are genetically dependent.

Special inheritance type analysis(dominant or recessive) athletic ability of a person was held by L.P. Sergienko (1993) in 163 families of high-class athletes (15 MS, 120 MS of international class, 28 honored MS - winners and prize-winners of the Olympic Games, World Championships, Europe and the USSR).

It turned out that most often (66.26%) high achievements were noted in “adjacent” generations: children - parents. At the same time, there were no "passes" of generations (as in the case of a recessive type of inheritance). Hence the assumption was made about the dominant type of inheritance.

It was found that parents, brothers and sisters - outstanding athletes - motor activity significantly exceeded the level characteristic of ordinary people in the population. 48.7% of parents were engaged in physical labor or sports, more fathers (29.71%) than mothers (18.99%); brothers (79.41%) were more active than sisters (42.05%).

There was not a single case among male athletes when the mother went in for sports, but the father did not. Outstanding athletes had many more male relatives than female ones; male relatives had a higher sports qualification than female relatives.

Thus, in male athletes, motor abilities were transmitted through the male line.

In female athletes, athletic abilities were transmitted mainly through the female line.

Outstanding athletes were predominantly younger and were born, as a rule, in families with two (44.79%) or three (21.47%) children.

There is a special pattern of family resemblance in the choice of sports specialization. According to L.P. Sergienko (1993), the greatest similarity was found in the choice of wrestling (85.71%), weightlifting (61.11%) and fencing (55.0%); the least - in preference for basketball and boxing (29.4%), acrobatics (28.575) and volleyball (22.22%). V.B. Schwartz (1972, 1991) reported high familial heritability in skiing (78%) and sprinting (81%).

For the sports selection of children (especially at its first stages), those factors determining the success of sports activity that are most limited by heredity and are of a conservative nature are of great importance. This is understandable, since any successful forecast is possible only if it is based on some stable, predictably developing factors. If, on the other hand, we take factors that are easy to train (ie, depend on environmental influences) as the basis for the forecast, then, given the incompleteness of the formation of the organism in childhood, it is practically impossible to make a forecast.

Which of the selected factors are the most limited by heredity and can serve as the most reliable indicators in determining sports suitability?

One of these factors is the constitutional structure of the body, its anthropometric data. Moreover, heredity has the greatest influence on the longitudinal dimensions of the body (the length of the trunk, upper and lower extremities, etc.), the smaller one - on the latitudinal dimensions (the width of the pelvis, hips, shoulders) and even less on the volumetric dimensions (girth of the wrist, thigh, lower leg, etc.). .).

In table. 5.7 shows the degree of heritability of a number of basic anthropometric (morphological) features (Shvarts V.B., Khrushchev SV., 1984).

Table 5.7

The heritability of human morphological traits

A somewhat lower heritability of transverse (latitudinal) and volumetric dimensions compared to longitudinal ones can be explained by a rather large variability of the fat component. So, at the age of 11 to 18 years, this component, which largely determines the physique, changes by 43.3% (and after 18 - even more), while fat-free - only by 7.9%.

Thus, the most reliable indicators of physique are height and other longitudinal dimensions of the body. In those sports where height is of great importance, this indicator can be used as one of the main ones already at the stage of primary selection, especially since it is possible to predict the length of a child’s body at almost any age, for which you can use the data given in Table. 5.8.

Table 5.8

Body length in boys and girls aged 1 to 18 years (in % of the final body length of an adult) (according to Schwartz V.B., Khrushchev SV., 1984)

Age, years
	boys

Despite the fact that the transverse dimensions of the body are inherited to a somewhat lesser extent, nevertheless, they can also serve as indicators of the expediency of practicing a particular sport.

It is also believed that a promising criterion for sports fitness is the value of lean, or active, body weight, most simply determined by the size of skin-fat folds at 10 points of the body using a special device - a caliper. The use of this indicator is due to the fact that human CT is largely determined by the presence (ratio) of lean and fat components.

Along with the constitution of the body, the most genetically determined signs are, as already noted, the main properties of the nervous system, which largely determine the mental make-up of the individual, her temperament, and character. Inherited from the father or mother, such characteristics of the nervous system as mobility, dynamism and balance practically do not change throughout life. Therefore, in those sports in which one or another property of the nervous system (or a set of properties) is of decisive importance, it can be quite reliable in determining sports suitability. Unfortunately, in practice, these signs are practically not used.

As for the personal properties of character, they (although based on the type of nervous system), depending on the conditions of life, the nature and direction of activity, the motivation for this activity, undergo significant changes, that is, they are quite mobile and therefore at the primary stages of selection when determining sports suitability cannot be used as primary.

One of the important factors determining the success of sports activities and the most widely used in the sports selection of those entering the Youth Sports School is physical readiness, which, as already mentioned, is manifested in the level of development of conditioned physical qualities. Therefore, it is extremely important to consider whether the upper threshold for the development of these qualities (endurance, speed, strength, flexibility) is inherited or the possibilities for their improvement are endless.

Endurance is a physical quality that is of great importance not only in cyclic, but also in many other sports; to a certain extent basic for the development of other physical abilities.

It is still widely believed that if, for example, natural inclinations are needed to develop speed, then endurance can be developed in any person, only systematic directed training is needed. Experimental data show that this is not the case. It turns out that high results at stayer distances can be achieved only if there is a certain heredity. It has been established that the maximum oxygen consumption (MOC), as the main criterion for assessing aerobic endurance, is within the limits determined by the individual genotype. The increase in the IPC during the most perfect training does not exceed 20-30% of the initial level. Thus, MPC (as an integral indicator of the performance of all systems that provide the body with oxygen) is one of the main features that determine the choice of sports that require maximum aerobic endurance. The relative value of the IPC in children varies slightly, especially among young athletes (Fig. 55) (Shvarts V.B., Khrushchev SV., 1984).

Rice. 55. Age dynamics of BMD (ml / min / kg) in athletes aged 10 to 18 years

Therefore, this indicator can be so reliable when choosing a sports specialization.

Another genetically determined indicator of the potential for the development of aerobic endurance is composition of muscle fibers. It has been proven that human muscles contain the so-called "fast" and "slow" fibers (the names of the fibers are due to the difference in the time of their contraction). An athlete (depending on the predominance of one or another) is able to succeed in "fast" or "slow" sports. Training does not change this ratio. Therefore, the composition of the muscles can be a reliable sign in determining the sports fitness of an already novice athlete (in highly qualified stayers, the number of "slow" fibers reaches 85-90%, "fast" - only 10-15%).

It should be noted that there is a direct relationship between the IPC and the "slow" fibers: the higher the level of the IPC, the more "slow" fibers in the human muscles (Fig. 56) (Shvarts V.B., Khrushchev SV., 1984).

Taking into account that the determination of the composition of muscles requires rather sophisticated laboratory equipment and the corresponding qualification of a specialist, in practice the MIC indicator is most widely used.

Rice. 56. The composition of the muscles of "slow" fibers (left) and MIC (ml / min / kg) - on the right in representatives of various sports

With MOC, a fairly reliable sign of aerobic endurance is physical performance, determined by the PWC (physical performance) test. The definition of physical performance using this test is based on two well-known facts of the physiology of muscle activity:

1. increased heart rate is directly proportional to the intensity (power) of the work performed;
2. the degree of heart rate increase is inversely proportional to the athlete's ability to perform muscular work of a given power. From this it follows that heart rate during muscular work can be used as a reliable criterion for determining endurance.

It should be noted that when determining the working capacity of children of primary school age, a heart rate of 170 bpm (during PWC) is sometimes unrealistic, so PWC can be used with this contingent (that is, the power of work is determined at a heart rate of 150 bpm). PWC is measured in W or kg/min.

It is also impossible not to pay attention to the fact that the PWC test can be considered as identical to the IPC test only at low and medium rates. With the maximum manifestations of endurance, the PWC test cannot completely replace the direct measurement of the IPC.

It was about the heritability of aerobic endurance, but it turns out that the anaerobic mechanism for providing muscle activity is also significantly influenced by genetic factors. The coefficient of heritability of this mechanism, according to the data of most researchers, ranges from 70 to 80%. Moreover, many authors indicate that the heritability of anaerobic performance can be up to 90% or more. The main indicator of anaerobic performance, as already mentioned, is the maximum oxygen debt (MAD).

It is well known that anaerobic performance largely determines not only the endurance shown in a relatively short, but very intense work, but also underlies such a quality as speed. Therefore, based on the anaerobic energy supply of muscle activity associated with the manifestation of speed, this physical quality is more often hereditary. Individual differences in the manifestation of speed are also associated with the characteristics of the nervous system, which, as has been repeatedly said, are also mainly genetically determined.

Speed ​​is largely an inherited quality. In persons located to sprint, the number of "fast" fibers, as noted, is 80-85%, "slow" - only 15-20%.

Hereditary predisposition is also found in the manifestation of speed of reaction, the development indicator of which can be used with a high degree of reliability in the selection for sports that clearly require the manifestation of this quality (for example, a goalkeeper in football, hockey, handball, etc.).

To a lesser extent than endurance and speed, strength is determined by heredity. But here it is important to note that the relative strength of the muscles (strength per 1 kg of weight) is subject to genetic control and can be used as a selection criterion for sports that require the manifestation of this quality.

A sufficiently reliable criterion due to genetic conditioning is the explosive strength of the muscles (manifested, in particular, when performing jumps from a place).

Absolute strength is due mainly to environmental influences, lends itself to training influence and cannot be considered a criterion in determining sports suitability.

Flexibility, the next conditional physical quality, is also genetically determined and can be used as a reliable indicator in determining fitness for sports (primarily in technically complex sports).

It is believed that for girls the influence of heredity on flexibility is more typical than for boys.

With regard to coordination abilities (a factor that has a decisive influence on the development of sports equipment), it should be said that they are also more often due to hereditary influence. This is explained by the fact that in most coordination manifestations, the properties of the nervous system, which are genetically predetermined, are of decisive importance.

Thus, we can conclude that the influence of hereditary factors on the manifestation of individual abilities for a particular sport is extremely high and it is not easy to find "one's own". It is clear that from a genetic point of view, sports talent is a rather rare phenomenon. Most people show results in sports that are close to average, and there are very few people who are not able to do this, as well as people who are able to show results that are significantly above average. Such a distribution in the form of a curve is shown in Fig. 57 (Shvarts V.B., Khrushchev SV., 1984).

Rice. 57. Normal distribution of persons capable of showing sports results

If we consider the sport of the highest achievements, then such a distribution, due to heredity, can give rise to pessimism among many who want to practice. But the fact that most people can achieve average (and near average) performance in sports should be an incentive to play sports in childhood and adolescence.

And let, for example, after completing the II category, a teenager leaves the sport, but the fact that he completed this category will leave a feeling of this achievement for life. Subjectively, for a teenager, the fulfillment of a category will be much more important than, for example, for someone who has studied for several years at a music school (where there are no qualification standards) and stopped classes.

Another thing is that with children who are obsessed, but clearly do not have sports talent, it is necessary to carry out appropriate work, orienting them to the knowledge of their capabilities, so that as a result of fruitless training they do not have and strengthen a sense of their own inferiority.

Many hereditary traits, including those that determine athletic fitness, are also transmitted from more distant ancestors (not only from parents). This, in the first place, can explain the fact that not all parents gifted in sports have gifted children.

Introduction

Physical development

Conclusion

Bibliography

Introduction

A newborn carries a complex of genes not only of his parents, but also of their distant ancestors, that is, he has his own rich hereditary fund inherent only to him or a hereditarily predetermined biological program, thanks to which his individual qualities arise and develop. This program is naturally and harmoniously implemented if, on the one hand, biological processes are based on sufficiently high-quality hereditary factors, and on the other hand, the external environment provides the growing organism with everything necessary for the implementation of the hereditary principle.

Skills and properties acquired during life are not inherited, science has not identified any special genes for giftedness, however, each born child has a huge arsenal of inclinations, the early development and formation of which depends on the social structure of society, on the conditions of upbringing and education, the cares and efforts of parents and desires of the smallest person.

Young people entering into marriage should remember that not only external signs and many biochemical characteristics of the body (metabolism, blood groups, etc.) are inherited, but also certain diseases or a predisposition to disease states. Therefore, each person needs to have a general idea of ​​​​heredity, to know his pedigree (health status of relatives, their external features and talents, life expectancy, etc.), to have an idea about the influence of harmful factors (in particular, alcohol and smoking) on ​​the development of the fetus. All this information can be used for early diagnosis and treatment of hereditary diseases, prevention of congenital malformations.

According to modern scientific data, the chromosomes of a nuclear substance are giant polymeric molecules consisting of nucleic acid strands and a small amount of protein. Each pair of chromosomes has a certain set of genes that control the manifestation of a particular trait.

The growth of a child is a programmed process of increasing the length and weight of the body, which takes place in parallel with its development, the formation of functional systems. At certain periods of child development, organs and physiological systems undergo structural and functional restructuring, young ones are replaced by more mature tissue elements, proteins, enzymes (embryonic, childish, adult type).

The genetic program provides the entire life cycle of individual development, including the sequence of switching and depression of genes that control the change in periods of development in the corresponding conditions of the child's life. Due to the changing mutual influence of gene and neuroendocrine regulation, each period of a child's development is characterized by special rates of physical growth, age-related physiological and behavioral reactions.

Inheritance of the traits of the parents

The units of heredity - genes - are located on chromosomes in a strictly defined order, and since human chromosomes are paired, each individual has 2 copies of a gene: a gene on the chromosome received from the mother, and a gene on the chromosome received from the father. If both genes are the same, the individual is said to be "homozygous", if different, he is "heterozygous". Genes that affect the manifestation of a particular trait are located in the same regions (loci) of homologous chromosomes and are called alleles, or alleles. In the heterozygous state, one of the allelic genes is dominant (predominant), the other is recessive. In relation to the trait of eye color, brown is dominant, and blue is recessive. A recessive trait in the body is in a latent state and can only appear if the gene for this trait is both on the chromosome from the father and on the identical chromosome from the mother. This nature of the manifestation of genes predetermines a different mechanism for the manifestation of hereditary diseases, among which there are dominantly and recessively inherited, as well as sex-linked.

To determine whether a particular trait in a person is dominant or recessive, the genealogical method of research (method of pedigrees) helps a doctor, anthropologist or geneticist. A pedigree is a scheme on which several generations of one family are marked with symbols. In this case, women are indicated by a circle, men by a square. The trait or disease being studied is indicated by a specific letter in the middle of a circle or square, or is shown as a hatched pattern. Parents, their brothers and sisters are located on the same line, children are also located horizontally, but below their parents, and their grandfathers and grandmothers are above their parents. Generation numbers are counted from top to bottom in order of seniority.

With dominant inheritance of a trait, it can be found in one or both parents, as well as in a grandfather or grandmother. With recessive inheritance, a trait can be found only in one of the generations in 25% of its members. The dominant trait in the pedigree scheme clearly protrudes vertically, while the recessive one only horizontally. There are signs observed in persons of a certain sex. This means that the gene encoding such a trait is located on one of the sex chromosomes. If such a gene is localized on the X chromosome, then this trait will be observed only in boys, since in girls another identical X chromosome can carry the gene for this trait with a different characteristic. In women, the trait controlled by the X - recessive gene does not appear, but is in a latent state, and they pass on half of their sons. Traits encoded on the Y chromosome are inherited only in boys.

The influence of heredity on the mental health of children

The mental development of a child is a complex process, which is influenced by the child's heredity, family climate and upbringing, the external environment, as well as a large number of social and biological factors.

There are two scientific directions that study the influence of genetic factors on a person. One of them is aimed at identifying the quantitative contribution of the influence of heredity to the occurrence of the disease, the other is engaged in the search and identification of genes responsible for the occurrence of mental disorders.

To obtain a quantitative assessment of the role of heredity in the development of the disease, families are studied in which the disease under study often occurs (accumulates). Also, twin pairs are examined to obtain a quantitative assessment: it is revealed how often both twins suffer from a mental illness (in this way the percentage of the disease coincides - concordance is determined), and the difference in this indicator is calculated for identical and multi-egg twins. An effective, albeit rather complex approach is the study of adopted children with mental disorders, as well as their biological and adoptive parents. This approach makes it possible to distinguish between the contribution of genetic factors and factors of a divided (intra-family environment) to the development of the disorder under study.

As a result of applying the approaches described above, scientists can assess the degree of heritability of a particular disease and calculate the relative risk of its occurrence in the relatives of the patient and his descendants.

Heritability or heritability coefficient is an indicator that reflects the contribution of genetic factors to the variability of the studied trait. Obviously, it can be assessed by studying pairs of blood relatives, i.e. people who share common genes. A good example of assessing heritability is the study of separated twins. Since such twins were brought up in different families, any similarity between them in psychological, emotional and behavioral characteristics can be considered the influence of genetic factors, the quantitative expression of which is the heritability coefficient. We emphasize that heritability cannot be identified with genetic predisposition, which is assessed using other indicators, using, for example, the relative risk value.

To identify genes associated with a mental disorder, scientists study isolated social communities in which the disorder accumulates. For example, a number of studies of this kind were carried out among the inhabitants of the Pacific Islands, as well as in religious communities closed from the outside world. The advantage of such studies is the ability to establish a common ancestor and trace the transmission of the disease from generation to generation. As a result, scientists are able to determine the region of the chromosome, within which there is a gene associated (linked) with the disease of interest to the researcher.

Another research method is the selection of a gene, the violations in the structure of which can presumably cause the development of a disease (such a gene is called a "candidate gene"), and the study of how its polymorphism is associated with the development of the disease under study. It is known that each gene can be represented by many forms, they are called polymorphic variants of the gene, and the phenomenon itself is denoted by the term molecular genetic polymorphism. Polymorphism is caused by changes in the sequence of nucleotides in the gene's DNA, represented by various variants. This may be the replacement of one nucleotide with another, or the removal of a nucleotide sequence (deletion), or a change in the number of repeated nucleotide sequences. Such changes may not affect the activity (expression) of the gene; not have any consequences for the body associated with a change in biochemical activity. In other cases, substitutions of nucleotides or a change in the number of their repeating sequences can affect the synthesis of the corresponding enzyme, and then the differences between people with different polymorphic variants of the gene will already appear at the biochemical level. As a rule, these differences do not cause the development of any diseases. But, as will be shown below on the example of the enzyme monoamine oxidase (MAO), the activity of the enzyme can be associated with certain features of the psyche.

The range of mental manifestations is quite wide. Mentally normal people differ from each other in various psychological characteristics. At the same time, it can be said with confidence that in about half of healthy people, the severity of certain psychological characteristics can reach an intermediate state between the norm and a mental disorder (such a state is called the “accentuation level” in medicine). Accentuation is a kind of sharpening of individual emotional and behavioral traits in a person, which, however, does not reach the level of personality disorder (psychopathy). The line between accentuation and psychopathy is very blurred, therefore, when diagnosing a patient with a personality disorder, doctors are guided by the possibilities for adapting a person with such disorders in society. To illustrate the difference between a healthy person and a person with a mental disorder, let's compare people with a paranoid personality and paranoid psychopaths. Paranoid personalities are people who are characterized by waywardness, lack of a sense of humor, irritability, excessive conscientiousness, intolerance of injustice. With paranoid personality disorder, the main symptoms of the disease are: constant dissatisfaction with something, suspicion, militantly scrupulous attitude to issues of personal rights, a tendency to experience their increased significance, a tendency to a peculiar interpretation of events. Almost all of us have encountered such people in our lives and can remember to what extent others can put up with their behavior or reject them.

The accentuation of mental manifestations is followed by the so-called borderline disorders, which include neurosis, psychogenic depression, personality disorders (psychopathies). Completing this spectrum of diseases are endogenous (i.e., caused by the influence of internal factors) mental illness, the most common of which are schizophrenia and manic-depressive psychosis.

In addition to the deviations listed above, children may suffer from diseases arising from various disorders in the maturation of mental functions (medics call such disorders non-adaptive or dysontogenetic forms of development). These disorders lead to inadequate intellectual and emotional development of the child, which can be expressed in various manifestations of mental retardation, hyperactivity, criminal behavior, attention deficit (increased distractibility), autism.

Let us consider what role genetic factors play in all the cases listed above and what is known about the genes that may be associated with the psychological characteristics of a person, as well as the development of mental illness.

Psychological characteristics of a person

The personality and psyche of any person is a unique combination of various properties that are formed under the influence of many factors, among which heredity does not always play a leading role. Nevertheless, scientists all over the world have long been trying to answer the question: which properties of a person's personality are determined by heredity, and to what extent external factors are able to overcome genetic ones in the formation of the psychological make-up of a person.

In the 20th century, a new branch of science was formed and developed - psychogenetics (in Western science it is called the genetics of behavior), as well as the study of the genetic component of the main mental illnesses - schizophrenia and manic-depressive psychosis. In the late 80s of the last century, the first works devoted to molecular genetic studies of schizophrenia appeared, and in 1996, for the first time, scientists managed to discover the genes that determine human temperament.

According to modern scientific research, genetic factors play a significant role in the formation of the psychological properties of a person's personality. So, scientists believe that a person inherits the main psychological traits from his parents by 40-60%, and intellectual abilities are inherited by 60-80%. A more detailed idea of ​​the heritability of intelligence is given in the article by M.V. Alfimova "The influence of genetic heredity on the behavior of a child, the change in influence with age, the influence of heredity on behavior."

Currently, scientists around the world are actively studying the molecular genetic basis of human behavior, and are also searching for genes associated with the development of mental illness. The search strategy for such genes is based on the use of the properties of molecular genetic polymorphism, which has already been discussed, as well as on the psychobiological model proposed by the famous American psychologist R. Cloniger. According to this model, the main features of temperament are closely related to certain biochemical processes occurring in the human brain.

For example, such a feature of a person's temperament as the desire to search for new sensations, risk appetite, called the "search for novelty" by the author, is due to the activity of the dopamine system of the brain, while the serotonin system of the brain is responsible for the occurrence of reactions of fear, anxiety in certain situations and the corresponding The trait is called "harm avoidance".

Dopamine and serotonin are substances that play an important role in the transmission of signals through the neural networks of the brain. In other words, these substances are responsible for the occurrence in a person of certain reactions to a certain situation: for example, they exacerbate or dull the sense of danger. Scientists are studying the effects of these substances on the human psyche in order to determine how much the ratio of dopamine and serotonin determines a person's temperament.

When studying the gene responsible for the transfer of serotonin, scientists also found that changes in its structure can affect the human psyche. It turned out that the activity of this gene is determined by the number of nucleotide repeats in its structure, which ultimately affects the level of serotonin entering the brain. Two alleles of this gene have been found, which are designated as long and short. When studying the temperament of carriers of different alleles, it was found that carriers of the short allele are more anxious people compared to carriers of the long allele. It is known that any gene has two alleles, received one from each of the parents. A person, a carrier of a gene with two short alleles, will be quite different in their psychological qualities from a carrier of a gene with two long alleles. The temperament of such people will vary greatly: it has been proven that, on average, carriers of the two long alleles are less anxious, more aggressive and have more pronounced schizoid features.

The polymorphism of another gene (monoamine oxidase A (MAOA) gene), which also affects serotonin metabolism in the human brain, is directly related to such temperamental characteristics as aggressiveness, hostility, and impulsivity. Geneticists have discovered several polymorphic variants of this gene, differing in length, which are designated as 1, 2, 3, 4, depending on its length. Alleles of the second and third genes are characterized by an increase in the activity of the corresponding enzyme, and for alleles 1 and 4 - its decrease, which indicates the existence of a certain allele length that is optimal for regulating the activity of the serotonin enzyme.

To obtain data on how polymorphism of this gene affects the human psyche, a unique study was conducted. We studied groups of male children - owners of a certain form of the MAOA gene. They were followed up from birth to adulthood. Geneticists have studied children who grew up in dysfunctional families in order to determine why some of them, with improper upbringing, commit antisocial acts, while others do not. It turned out that carriers of a genetic variant associated with high activity of the serotonin enzyme are generally not prone to antisocial behavior, even if they grew up in dysfunctional families.

Scientists believe that at least 10-15 genes are responsible for the occurrence of a particular psychological trait, while the formation of a mental disorder (or a stable trait of temperament, for example, aggressiveness) is possible only if a number of genetic changes occur in a person.

Developmental Disorders

One of the manifestations of violations of the child's mental development, which may be due to genetic factors, is the inability to learn. The influence of genetics has been studied in most detail for one of the forms of dyslexia, which is associated with a specific inability to read, in particular, the inability to match written and spoken words. This form of dyslexia can be inherited, and at the moment there is an active search for the gene responsible for the occurrence of this disorder. To date, evidence has been obtained that one of the regions of chromosome 6 may be associated with this form of dyslexia.

A disease such as attention deficit hyperactivity disorder (ADHD), diagnosed in 6-10% of children, is also due to genetic changes. The manifestations of this syndrome are restlessness, easy distractibility, impulsiveness of the child's behavior. This disorder most often occurs in the case of a child's genetic predisposition: for example, according to researchers, the heritability of ADHD is from 60 to 80%. A study of adopted children suffering from this syndrome showed that their biological relatives had it more often than their adoptive parents. It should be noted that ADHD is often combined with other mental disorders, such as depression, antisocial behavior, dyslexia mentioned above, which allows us to draw conclusions about the presence of common genetic bases for these disorders.

Physical development

Under the physical development of the child is understood as a set of morphological and functional characteristics of the body in their relationship. The intensive processes of growth and maturation of the child's body determine its special sensitivity to environmental conditions. The physical development of children is significantly affected by the climate, living conditions, daily routine, diet, as well as previous diseases. The rate of physical development is also influenced by hereditary factors, the type of constitution, the intensity of metabolism, the endocrine background of the body, the activity of blood enzymes and the secrets of the digestive glands.

In this regard, the level of physical development of children is considered to be a reliable indicator of their health. When assessing the physical development of children, the following indicators are taken into account:

1. Morphological indicators: body length and weight, chest circumference, and in children under three years old - head circumference.

2. Functional indicators: vital capacity of the lungs, muscle strength of the hands, etc.

3. The development of muscles and muscle tone, the state of posture, the musculoskeletal system, the development of the subcutaneous fat layer, tissue turgor.

It is believed that there are more than 100 genes that regulate the speed and limit of human growth, but it is difficult to obtain direct evidence of their role. The influence of heredity as a whole affects the physical development, especially growth, of a child after 5 years of life. There are two periods when the correlation between the height of parents and children is most significant. This is the age from 5 to 8 years, when the action of one group of genes affects (the first family factor), and the age from 9 to 11 years, when growth regulation depends on other genes (the second family factor). Hereditary factors determine the rate and possible limit of a child's growth under optimal conditions of life and upbringing.

Developmental plans determined by genes set both the direction of change and the end state. The stability of the path of development of any characteristic is determined by how deeply the creodes are laid and how well this characteristic is protected from external influences that can lead it astray, and if this happened, then whether the deviation can be eliminated by itself. Thus, the development of some characteristics is so strongly channeled that they achieve a genetically programmed goal under almost any circumstances. Nevertheless, there is no reason to believe that for each human trait there is a single canalized path given by one or more genes. It is unlikely, for example, that there is a special gene, all the more common for all people, responsible for the shape and size of hands, posture, gait or speech. It is more plausible that the manifestation of each behavioral and each physical characteristic is due to many genes, and therefore the paths along which development proceeds are varied and complex, and each of them has its own movement, organization and guiding force. From this point of view, many genes controlled by other (regulatory) genes underlie developmental changes. Therefore, although the general pattern of development may be essentially the same for all people, in the course of it a considerable variety of physical and behavioral characteristics arise. A close examination of any pair of newborns immediately shows that they are not exactly alike. Despite the commonality of external features and behavior - the species characteristics of a person, there are individual differences in the color, structure and number of hair, in the size and shape of the ears and fingers, in facial expressions, in the nature of crying and sleep, in irritability.

Conclusion

Based on the facts presented, it can be concluded that having information about the presence of mental and physiological diseases in the pedigree of an adopted child will help to anticipate potential difficulties in the development of the child and possibly avoid them.

Although mental and physiological abnormalities are inherited, no less strong influence than genetic factors on the development of the disease is the environment in which the child grows up - the level of education, the social environment of the child, the school, and especially the influence of parents and the general family climate. Various mental and behavioral deviations in children occur precisely in orphanages and children's homes, which is associated with a lack of attention to children in these institutions. The very fact of living in a family, and not in an institution, has a decisive impact on the mental health of the child.

It should also be realized that molecular genetic tests for the detection of mental and physical illnesses are a matter of the future. If in any medical institution you are offered to do an analysis, keep in mind that at best it will be a determination of the polymorphism of genes that may affect the development of mental disorders. At the same time, no scientist can currently unequivocally say what contribution these genes make to the development of the disease.

In conclusion, I would like to digress from the scientific presentation and move on to the plane of assessing the problem from the point of view of common sense of life and those humanitarian positions that a person takes when he decides to raise a child. When linking one's life with a child whose heredity is burdened with severe mental illness, one must first of all recognize the existence of a problem and be ready to solve it.

Bibliography

1. "Mental development of children in normal and pathological conditions" Kolominsky Ya.L., Panko E.A., Igumnov S.A. - St. Petersburg: Peter, 2006. - 480 p.

2. M.V. Alfimova "The influence of genetic heredity on the behavior of the child, the change in influence with age, the influence of heredity on behavior" M., 2006.

3. Amonashvili Sh.A. "Unity of purpose" M.: Enlightenment, 2007. - 208s.

4. Belov V.P. "Pathological development of the child" M., 2005.

5. Volkov L.V. "Physical abilities of children". Kyiv: Health. - 2004.

6. Barshai V.N., Bobkin A.I. "Physical development - Rostov-on-Don, 2007. - 78 p.

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Heredity as a development factor

Introduction

At present, an interdisciplinary approach to the problem of human development is becoming more widespread, involving the integration of specific scientific knowledge belonging to different areas - developmental psychology, developmental physiology, and genetics. The growing integration of knowledge forces us to reconsider some of the prevailing ideas about the relationship between biological and social in human development. The traditional confrontation of biological and culturological ideas about a person is being replaced by a more constructive approach, within which the co-evolution of the biological and the social is brought to the fore, and the social determinism of human biology is affirmed. As a more adequate position is that the development of the individual is characterized by an inseparable unity of the natural and the social.

With this approach, the significance of genetic foundations in human development is interpreted in a new way. The genetic is no longer opposed to the social. On the contrary, the position is put forward that the genotype contains, in a folded form, firstly, information about the historical past of a person and, secondly, the program of his individual development associated with this, adapted to the specific social conditions of life. Thus, genetics and, first of all, heredity is becoming increasingly important in studying the question of the driving forces and sources of development of a person's individuality.

This is the reason for the relevance of the topic of this work.

The purpose and objectives of this work is to study heredity as a development factor.

1 The concept of heredity

Heredity is the property of an organism to repeat in a number of generations similar types of metabolism and individual development as a whole.

The following facts testify to the action of heredity: the curtailment of the infant's instinctive activity, the length of childhood, the helplessness of the newborn and infant, which becomes the reverse side of the richest possibilities for subsequent development. Yerkes, comparing the development of chimpanzees and humans, came to the conclusion that full maturity in the female occurs at 7-8 years, and in the male - at 9-10 years.

At the same time, the age limit for chimpanzees and humans is approximately equal. M. S. Egorova and T. N. Maryutina, comparing the significance of hereditary and social factors of development, emphasize: "The genotype contains the past in a folded form: firstly, information about the historical past of a person, and secondly, the program associated with this his individual development 1 .

Thus, genotypic factors typify development, i.e., ensure the implementation of the species genotypic program. That is why the species homo sapiens has the ability to walk upright, verbal communication and the versatility of the hand.

At the same time, the genotype individualizes development. Genetic studies have revealed a strikingly wide polymorphism that determines the individual characteristics of people. The number of potential variants of the human genotype is 3 x 1047, and the number of people who lived on Earth is only 7 x 1010. Each person is a unique genetic object that will never be repeated.

2 Heritability of individual psychological differences

The vast majority of methods of psychogenetics are based on a comparison of the studied characteristics in people who are in varying degrees of relationship - genetically identical monozygotic twins, having on average half of the common genes of dizygotic twins, brothers and sisters (siblings), parents and children, genetically different adopted children.

For characteristics that have continuous variability, a sign in a particular person is a quantitative value (score) obtained on a scale that measures this characteristic. In this case, the mathematical expression of individual differences is the total variance of the studied characteristic. Examination of pairs of people with different degrees of relationship and, therefore, genetic similarity, allows you to quantify how much of the observed variability of the trait (individual differences) is associated with the genotype, and how much with the environment.

One of the main concepts here is "heritability" - a statistical indicator that reflects the contribution of the genotype to the interindividual variability of a trait in a particular population. Heritability is not a fixed property of the studied trait, it depends on the breadth of representation in the population of genetic and environmental factors that affect this trait. For various reasons: due to the genetic characteristics of the population, changes in the social conditions of development, assortativeness (marriages between people similar in the observed trait), etc. the representation of genetic and environmental factors influencing the studied trait can change, decreasing or increasing the heritability index. It is a mistake to identify the high heritability of a trait with its rigid genotypic determination in a particular person. High heritability rates indicate that the interindividual variability of a trait (i.e., individual differences) is mainly determined by genotype diversity, and environmental diversity does not significantly affect this trait. In other words, the uniformity of environmental conditions creates the prerequisites for the manifestation of genotypic diversity.

As shown by numerous studies conducted in Europe and North America, the heritability of a number of human characteristics, including indicators of intelligence, cognitive abilities, personality traits and temperament ranges from 0.40 to 0.70 2 . Thus, the diversity of genotypes explains a significant part of the dispersion of cognitive and personality characteristics observed in the population. In other words, many individual psychological characteristics are largely the result of the implementation of the individual part of the genetic development program.

The rest of the variance is accounted for by environmental influences. Environmental variance is the portion of the overall variance observed in a study that is explained by differences in media. In the environmental component of the dispersion, various types of environmental influences can be distinguished, for example, interfamily and intrafamily. The former are determined by factors common to each family: standard of living, upbringing, living conditions, and characterize the differences between families. The second type characterizes the measure of individual differences, which are determined by differences within the family.

Environmental factors can also be divided into common for all family members and different, i.e. individual-specific for each of its members. In 1987, the American psychogeneticists R. Plomin and D. Daniels published an article “Why are children in the same family so dissimilar?” The family is played not by the general family environment, but by the environment individually-specific for each of its members. Indeed, with the commonality of living conditions in one family, the system of relations and preferences that exist between parents and children, among children among themselves, is always very individual. At the same time, each member of the family for another acts as one of the "components" of the environment.

Judging by some data, it is precisely this environment, which is individually specific for each child, that has a very significant influence on his mental development. Judging by a number of data, it is this environment, which differs in different family members, that mainly determines the variability of personality and intelligence indicators (starting from adolescence), explaining from 40% to 60% of all individual differences in these areas. 3 .

3 Possibilities of developmental psychogenetics for developmental research

The methods of age-related psychogenetics make it possible to set specific research tasks and determine ways to solve them by analyzing the interaction of hereditary and environmental factors in the formation of individual differences. Such an analysis is applicable to most psychological and psychophysiological characteristics, since they have continual variability.

It is important to note that some of the problems proposed by psychogenetics cannot be unequivocally resolved by the methods of other related disciplines (for example, developmental psychology).

The influence of socialization on the change in the nature of psychological properties. The development with age of self-regulation, the assimilation of norms of behavior, etc., leads to the masking of features related to the sphere of temperament, and to the development, firstly, socially acceptable and, secondly, more complex forms of behavior. What happens in ontogenesis with individual differences in the properties of temperament? Does the share of manifestations of temperament in behavioral characteristics decrease or not with age? How are the formal-dynamic components of behavior included, for example, in personality traits? Since all modern theories of temperament postulate hereditary conditioning of its individual differences, age-related psychogenetics provides a number of opportunities for experimental study of these issues.

To do this, it is necessary, firstly, to consider the genotype-environment ratios for the same properties at different ages, i.e., to compare heritability indicators, and secondly, to analyze genetic correlations for the same characteristics, i.e., to determine to what extent at different ages genetic influences overlap. This intersection (covariance) can be significant, regardless of the relative contribution of the genotype to the variability of the characteristic, i.e., the measure of heritability. The obtained indicators of heritability will make it possible to answer the question of whether the influence of the genotype on individual differences in the characteristic under consideration remains, in other words, whether the characteristic under study belongs to the properties of temperament. In this case, genetic correlation will show the degree of continuity of genetic influences. This method allows to experimentally validate theoretical ideas about the relation of human behavioral characteristics to different levels in the hierarchy of psychological properties.

Identification of types of environmental influences. One of the possibilities offered by age-related psychogenetics is to elucidate the question of whether with age there is a change in the types of environmental influences for individual differences. An important advantage of the methods of age-related psychogenetics is the possibility of meaningful analysis and quantitative assessment of environmental influences that form individual differences in psychological characteristics. The genotype quite rarely determines more than half of all interindividual variability in individual psychological traits. Thus, the role of non-genetic factors in the formation of individual differences is extremely high.

Developmental psychology has traditionally explored the role of family characteristics in the development of psychological characteristics. Nevertheless, psychogenetic studies, due to their focus on individual differences and due to methods that make it possible to quantify the components of the interindividual variance of the characteristic under study, not only confirm the data of developmental psychology, but also make it possible to single out such environmental parameters and such features of environmental influences that were not previously noticed. . Thus, the proposed and experimentally confirmed in age-related psychogenetics division of environmental factors into common for all family members (or, more often used, for family members belonging to the same generation) and different environmental influences made it possible to conclude that there are individual differences in personality traits. and, to a large extent, in the cognitive sphere, are the result of an individual-specific environment for each child. According to the psychogeneticists Plomin and Daniels, the significance of these factors is so great that many theories based on the notion of the leading role of the family environment in shaping the psychological characteristics of a person, and even the currently existing principles and approaches to learning and learning, should be revised in their light. education.

Environmental and genetic influences on individual differences in psychological and psychophysiological characteristics do not act in isolation from each other.

Genotype - environmental interaction. A manifestation of this interaction is that the same environmental conditions of development will be more favorable for people with one genotype and less favorable for people with a different genotype.

For example, in two-year-old children, emotional status determines whether cognitive development will be associated with some features of the environment in which this development occurs. With a low emotionality of the child, such features as the degree of involvement of the mother in communication and games with him, the variety or uniformity of toys, the type of punishment used, are not related to the level of intelligence. In children with high emotionality - there is such a connection 4 .

Genotype - environmental correlation. The genetic and environmental components of the total variance of psychological traits can correlate with each other: a child can receive from his parents not only the genetically determined prerequisites for any abilities, but also the appropriate environment for their intensive development. This situation is well illustrated by the existence of professional dynasties, for example musical ones.

Gene-environment correlations can be of different types. If a child "inherits" along with the genes environmental conditions that correspond to his abilities and inclinations, they speak of a passive gene-environment correlation. Reactive gene-environmental correlation manifests itself in those cases when the surrounding adults pay attention to the characteristics of the child (the variability of which is genotypically determined) and take any action for their development. Situations in which the child himself actively seeks conditions that correspond to his inclinations, and even creates these conditions himself, are called active gene-environment correlation. It is assumed that in the process of development, as children more and more actively master the ways of interacting with the outside world and form individual strategies for activity, there may be a change in the types of gene-environmental correlations from passive to active.

It is important to note that genotype-environmental correlations can be not only positive, but also negative. 5 .

The study of genotype-environmental correlations is possible either by comparing individual differences between adopted children and children living in their own families, or (which is less reliable) by comparing parents and children and determining the correspondence of the resulting models to certain mathematical models of interaction. To date, it can be said with certainty that a significant part of the variability of cognitive development indicators is a consequence of the genotype - environmental correlation.

Mediation by the genotype of the perception of environmental conditions. It is known that the relationship between the conditions of development and the psychological characteristics formed under these conditions is mediated by a number of factors.

These factors include, in particular, how the child perceives the attitude of others around him. However, this perception is not free from the influence of the genotype. So, D. Rowe, studying the perception of family relationships by adolescents on a twin sample, found that the perception, for example, of the emotional reactions of parents is largely determined by the genotype.

Mediation by the genotype of the relationship between traits. Recently, there has been a shift in interest in psychogenetics from studying the variability of individual behavioral characteristics to their multivariate analysis. It is based on the assumption that “methods used in psychogenetics that make it possible to estimate the genetic and environmental components of the variance of an individual trait can be used with the same success to estimate the genetic and environmental components of covariance between traits.” Thus, the combination of low heritability and high phenotypic correlation between traits (as was, for example, obtained in the study of children's emotionality and properties, temperament, included in the "difficult child" syndrome) indicates the environmental mediation of relationships between these features.

This direction (the study of the nature of the covariance of features) is important for the study of the nature of differentiation that occurs in the process of development. Thus, the genetic mediation of connections between cognitive and motor development decreases from the first to the second year of life, while maintaining the same level of phenotypic connections at both ages. This suggests the presence of genetic differentiation.

Influence of genotype on age-related stability and age-related changes. The influence of the genotype determines not only the stability of development, but also the changes that occur with age. In the future, psychogenetic studies should provide information about the influence of genotype-environment ratios on developmental trajectories. There is already evidence that the dynamics of the development of a number of psychological characteristics (for example, periods of acceleration and deceleration) reveals a greater similarity in monozygotic twins than in dizygotic twins. 6 . There is an assumption that the dynamics of the process of mental development is determined by the sequence of deployment of the genotypic program.

It is difficult to overestimate the significance of these ideas and data of age-related psychogenetically for developmental psychology, since the identification of periods of qualitative changes in the genotype-environmental determination in the variability of psychophysiological and psychological characteristics provides researchers with an independent characteristic that it is advisable to take into account when constructing age periodization. In addition, the concept of genotype-environmental relationships in the variability of psychological functions and their psychophysiological mechanisms makes it possible to identify periods of greatest sensitivity to environmental influences, i.e., sensitive periods in the development of psychological characteristics.

Conclusion

Each stage of development in ontogenesis occurs as a result of the actualization of various parts of the human genome. In this case, the genotype performs two functions: it typifies and individualizes development. Accordingly, in the morphofunctional organization of the CNS, there are structural formations and mechanisms that carry out the implementation of two genetic programs. The first of them provides species-specific patterns of development and functioning of the CNS, the second - individual variants of these patterns. The first and second underlie two aspects of mental development: specific (normative) and the formation of individual differences. The contribution of the genotype to ensuring the normative aspects of development during ontogenesis is significantly reduced, along with this, the influence of the genotype on the formation of individual psychological characteristics of a person tends to increase.

Psychogenetics is often associated exclusively with the determination of the proportion of genotypic and environmental influences in the overall variability of a trait, and age-related studies in this area are associated with a statement of the change (or invariance) of this ratio. In fact, this is far from the case. The issues considered by age-related psychogenetics are much broader and are in direct connection with the theoretical problems of age-related psychology and psychophysiology. The methods of psychogenetics provide unique opportunities and allow reaching certain conclusions where other approaches are doomed to remain in the realm of assumptions. And the results of research conducted in age-related psychogenetics, at least, are not trivial.

List of used literature

1. Egorova M.S., Maryutina T.M. Ontogenetics of human individuality // Vopr. psychol. 1990. No. 3.
2. Egorova M.S., Zyryanova N.M., Parshikova O.V., Pyankova S.D., Chertkova Yu.D. Genotype. Wednesday. Development. - M.: O.G.I., 2004.
3. Zaporozhets L.Ya. The main problems of the development of the psyche // Selected psychological works. T. II. M., 1986.
4. Malykh S.B., Egorova M.S., Meshkova T.A. Fundamentals of psychogenetics. - M.: Epidavr, 1998.
5. Maryutina T. M. Species and individual in human development. -http://www.ethology.ru/persons/?id=196
6. Mozgovoy VD Research of hereditary determination of voluntary attention // Problems of genetic psychophysiology. M., 1978.
7. The role of the environment and heredity in the formation of human individuality / Ed. I. V. Ravich-Sherbo. M., 1988.

1 Egorova M.S., Maryutina T.M. Development as a subject of psychogenetics // Reader in Developmental Psychology. - M.: MGU, 2005.

2 Egorova M.S., Ravich-Scherbo I.V., Maryutina T.M. Psychogenetic research // Moscow psychological school. History and modernity, v. 1, kn. 2 M.: PI RAO. - 2004.

3 Maryutina T. M. Species and individual in human development. - http://www.ethology.ru/persons/?id=196

4 Egorova MS Genotype and environment in the variability of cognitive functions // The role of environment and heredity in the formation of human individuality. M., 1988

5 Egorova M.S., Maryutina T.M. Development as a subject of psychogenetics // Reader in Developmental Psychology. - M.: MGU, 2005.

6 Egorova M.S., Maryutina T.M. Development as a subject of psychogenetics // Reader in Developmental Psychology. - M.: MGU, 2005.

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This is one of the factors that cannot be influenced. No diet, no matter how excellent, or regular exercise can eliminate the existence of a bad heredity, which is expressed in a predisposition to cardiovascular diseases. Certain disorders in the work of the heart can be passed down from generation to generation, be hidden for many years and suddenly lead to death, as sometimes happens with distance runners. That's why it's important to know your family's medical history to help you understand your own risk of having a serious heart attack.

If there were deaths in the family at an early age from heart disease, it is very important to determine what exactly was the cause of their death. There is no need to worry if one of the relatives who died of heart disease at a young age was significantly overweight, smoked a lot and led a predominantly sedentary lifestyle. His early death would not be a "hereditary factor", since the cause was most likely the so-called external factors that do not affect the descendants if they do not lead the same depressingly wrong way of life. At the same time, if a relative who died early was slim and fit, did not smoke, exercised regularly, and nevertheless died before the age of 50 from a heart disease, then we can talk about the presence of a factor that can be inherited.

Heredity can, to some extent, protect against diseases. Everyone knows a lot of stories about people who were heavy smokers, drank unlimited amounts of alcohol and ate so much as if they did not expect to wait until tomorrow, but died at the age of 95 due to a skiing accident. Indeed, there are many people in whose physique and appearance there is nothing that at first glance could distinguish them from the rest and protect them from the likelihood of cardiovascular diseases. So, in the state of Arizona lives the Pima Indian tribe, which, it would seem, should be among the first candidates for getting cardiovascular diseases. They have the highest incidence of diabetes and a very high percentage of overweight people. Their diet largely consists of what nutritionists call "empty calories".

But for all that, they have an extremely low content of "bad" cholesterol (low density) and a high content of "good" cholesterol (high density) in the blood. Apparently, therefore, the percentage of heart disease in the Pima Indians is seven times lower than among the rest of the American population. Only 4-6% of these people younger than 60 years of age have any abnormalities on the electrocardiogram. This means that we can say that this ethnic group has developed a hereditary protective reaction against cardiovascular diseases. Perhaps this is due to the fact that their ancestors lived in harsh conditions, worked hard physically.

In some examples, in the study of cardiovascular diseases and the influence of heredity, the negative impact of the "Western" way of life on representatives of those nationalities who were little predisposed to these dangerous diseases was clearly traced. As soon as these people changed their diet and lifestyle, the percentage of cardiovascular diseases and sudden death among them increased significantly.

So, although nothing can be changed if one of the ancestors suffered from cardiovascular diseases, it is possible to "fix" so-called external factors, such as diet or lifestyle.

MINISTRY OF EDUCATION AND SCIENCE OF THE RUSSIAN FEDERATION

FEDERAL AGENCY FOR EDUCATION

STATE EDUCATIONAL INSTITUTION OF HIGHER PROFESSIONAL EDUCATION

RUSSIAN STATE UNIVERSITY OF TRADE AND ECONOMICS

IF GOU VPO RGTEU

Department of Commerce, Commodity Science and Expertise of Goods

Academic discipline: Physical Culture

Heredity and its impact on health

Course work

(Full Name)

4 full-time courses5

by specialty 080401 Commodity research and examination of goods5

(code, name of specialty)

checked:

(full name, academic degree, academic title)

Introduction…………………………………………………………………………….....3

Heredity………………………………………………………………………..5

Hereditary diseases……………………………………………………………..7

Prevention and treatment of hereditary diseases……………………………..... 11

The social and legal aspect of the prevention of certain hereditary

diseases and congenital malformations in humans………………………...14

Conclusion………………………………………………………………………........17

Bibliographic list………………………………………………………….18

Introduction

Physical and mental health must be considered in dynamics, namely as a process that changes throughout a person's life. Health largely depends on heredity and age-related changes that occur in the human body as it develops. The body's ability to resist the effects of harmful factors is determined by the genetic characteristics of adaptive mechanisms and the nature of their changes. According to modern concepts, a large role in the formation of adaptive mechanisms (by about 50%) is played by the period of early development (up to 5-8 years). The potential ability to resist harmful factors formed at this stage is realized and constantly improved. But these are just the beginnings that need to be developed.

Suppose a child was born with a burdened heredity, i.e. he has a damaged mutant gene, which, circulating in the genus even before the time of his birth, marked his hereditary properties - the genotype. Does this mean that the child will definitely get sick? Is it fatal? It turns out not. It only means that he has a predisposition, the realization of which requires certain provocative stimuli.

The works of geneticists have proved that under favorable conditions, a damaged gene may not show its aggressiveness. A healthy lifestyle, the overall healthy status of the body can "pacify" its aggressiveness. Unfavorable environmental conditions almost always increase the aggressiveness of pathological genes and can provoke a disease that would not have manifested itself under other circumstances.

And if everything is fine with heredity, how will events develop then? If the parents are healthy and they have a healthy child, does this mean that he will be healthy all his life?

Not at all, since you can inherit good health from your parents and significantly worsen it in a few years. And at the same time, you can be born with poor health, but with effort, strengthen it.

Thus, the level of health of an individual depends on the genetic "background", the stage of the life cycle, the adaptive abilities of the organism, the degree of its activity, as well as the cumulative influence of factors of the external (including social) environment.

Heredity

Heredity refers to the reproduction in descendants of biological similarities with parents.

Heredity is the genetic program of a person that determines his genotype.

The hereditary programs of human development include a deterministic and a variable part that determine the general thing that makes a person a person, and that special thing that makes people so different from each other.

The deterministic part of the hereditary program ensures, first of all, the continuation of the human race, as well as the specific inclinations of a person as a representative of the human race, including the inclinations of speech, walking upright, labor activity, and thinking.

Outward signs are transmitted from parents to children: features of physique, constitution, color of hair, eyes and skin.

The combination of various proteins in the body is rigidly genetically programmed, blood groups and the Rh factor are determined.

Blood diseases (hemophilia), diabetes mellitus, some endocrine disorders - dwarfism have a hereditary character.

Hereditary properties also include features of the nervous system, which determine the nature, features of the course of mental processes.

The inclinations to various types of activity are inherited. Every child by nature has four groups of inclinations: intellectual, artistic and social. Inclinations are a natural prerequisite for the development of abilities. A few words must be said about intellectual (cognitive, educational) inclinations. All normal people by nature receive high potential opportunities for the development of their mental and cognitive powers. The existing differences in the types of higher nervous activity only change the course of thought processes, but do not predetermine the quality and level of intellectual activity itself. But educators and psychologists recognize that heredity may be unfavorable for the development of intellectual abilities. Negative predispositions are created, for example, by sluggish brain cells in the children of alcoholics, impaired genetic structures in drug addicts, and hereditary mental illnesses.

hereditary diseases

All hereditary diseases caused by the presence of one pathological gene are inherited in accordance with the laws of Mendel. The occurrence of hereditary diseases is due to violations in the process of storage, transmission and implementation of hereditary information. The key role of hereditary factors in the occurrence of a pathological gene leading to a disease is confirmed by the very high frequency of a number of diseases in some families compared to the general population.

Hereditary diseases are diseases transmitted to offspring due to changes in hereditary information - gene, chromosomal and genomic mutations. The terms "hereditary diseases" and "congenital diseases" are not synonymous. Congenital are called diseases that are detected from birth; they can be associated with both hereditary and exogenous factors. For example, malformations can occur not only with genetic disorders, but also as a result of the action of infectious diseases on the embryo. factors, ionizing radiation, chemical compounds, medicines. Hereditary diseases are not always congenital, since many of them do not appear immediately after birth, but after several years, sometimes decades. The term “family diseases” should not be used as a synonym for the term “hereditary diseases”, since the latter can be caused not only by hereditary factors, but also by living conditions or professional traditions of the family.

About 3,000 hereditary diseases and syndromes are known, which determine a rather significant "genetic load" of mankind. Hereditary diseases are divided into three main groups:

Monogenic, caused by a defect in one gene;

Polygenic (multifactorial) associated with a violation of the interaction of several genes and environmental factors;

Chromosomal, resulting from a change in the number or structure of chromosomes.

Monogenic diseases are most often caused by mutations in structural genes. According to the type of inheritance, monogenic diseases are divided into autosomal dominant, autosomal recessive and sex-linked. According to the autosomal dominant type, mainly diseases are inherited, which are based on a violation of the synthesis of structural proteins or proteins that perform specific functions (eg, hemoglobin). These include some hereditary kidney diseases, Marfan syndrome, hemochromatosis, some types of jaundice, neurofibromatosis, familial myoplegia, thalassemia, etc.

With an autosomal recessive type of inheritance, the mutant gene appears only in the homozygous state, when the child receives one recessive gene from the father, and the second from the mother. The probability of having a sick child is 25%. Autosomal recessive inheritance is most characteristic of metabolic diseases in which the function of one or more enzymes is impaired.

Recessive inheritance, linked to the X chromosome, is that the action of the mutant gene is manifested only with the XY set of sex chromosomes, that is, in boys (girls have the sex set XX). This type of inheritance is characteristic of progressive muscular dystrophy of the Duchenne type, hemophilia A and B, Gunther's disease, etc.

Dominant inheritance, linked to the X chromosome, is that the action of the dominant mutant gene is manifested in any set of sex chromosomes (XX, XY, XO, etc.), i.e., regardless of gender. This type of inheritance can be traced in a rickets-like disease - phosphate-diabetes.

According to the phenotypic manifestation, monogenic hereditary diseases are divided into metabolic diseases caused by the absence or decrease in the activity of one or more enzymes; diseases associated with impaired synthesis of structural proteins; immunopathology; diseases caused by impaired synthesis of transport proteins; pathology of the blood coagulation system, the transfer of substances through cell membranes, hormone synthesis, DNA repair. The most extensive and studied group of monogenic hereditary diseases are metabolic diseases (enzymopathies). Violation of the synthesis of structural proteins (proteins that perform plastic functions) is a likely cause of diseases such as osteodysplasia and osteogenesis imperfecta. There is evidence of a certain role of these disorders in the pathogenesis of hereditary nephritis-like diseases - Alport syndrome (characterized by hematuria, hearing loss) and familial hematuria. Gene mutation can lead to pathology of the immune system; gammaglobulinemia is the most severe, especially in combination with aplasia of the thymus. Violation of the synthesis of hemoglobin, a blood transport protein, caused by a gene mutation, underlies the development of sickle cell anemia. A number of mutations in genes that control the synthesis of blood coagulation factors are known. Genetically determined disturbances in the synthesis of VIII, IX or XI coagulation factors lead to the development of hemophilia A, B or C, respectively. lysine and ornithine) in the kidneys and intestines. The disease is inherited in an autosomal recessive manner and is manifested by increased urinary excretion of cystine, the development of nephrolithiasis and interstitial nephritis. Diseases associated with a genetic defect in the synthesis of hormones include hereditary hypothyroidism, caused by a violation of the synthesis of thyroid hormones. In the study stage are diseases, which are based on the insufficiency of DNA repair mechanisms (restoration of its altered molecule). Violation of DNA repair has been established in xeroderma pigmentosa, Fanconi anemia, systemic lupus erythematosus and some other diseases.

Polygenic (multifactorial) diseases, or diseases with a hereditary predisposition, are caused by the interaction of several genes (polygenic systems) and environmental factors. These diseases include gout, some forms of diabetes mellitus, constitutional-exogenous obesity, hypertension, many chronic diseases of the kidneys, liver, allergic diseases, etc. Polygenic diseases are observed in approximately 20% of the population; their pathogenesis is not well understood. It is assumed that they often manifest themselves under the constant influence of adverse environmental factors (irrational nutrition, overwork, etc.). Deviations from the normal variants of the structure of structural, protective and enzymatic proteins can determine the existence of diathesis in children.

Chromosomal diseases are caused by genomic (changes in the total number of chromosomes) and chromosomal (structural rearrangement of chromosomes) mutations. If they occurred in germ cells, then the changes are transmitted to all cells of the body - the so-called forms of chromosomal diseases develop. In those cases where the mutation arose in the early stages of fragmentation of the embryo, anomalies in the number or structure of chromosomes will be observed only in part of the cells of the body, and the disease will manifest itself in an incomplete, or mosaic, form.

The clinical classification of hereditary diseases is based on the organ and systemic principles and does not differ from the classification of acquired diseases. According to this classification, hereditary diseases of the nervous and endocrine systems, lungs, cardiovascular system, liver, gastrointestinal tract, kidneys, blood system, skin, ear, nose, eyes, etc. are distinguished. This classification is conditional, because with most hereditary diseases, several organs are involved in the pathological process or systemic tissue damage is observed.

Prevention and treatment of hereditary diseases

Due to the insufficient knowledge of the pathogenetic mechanisms of many hereditary diseases, and, as a result, the low effectiveness of their treatment, preventing the birth of patients with pathology is of particular importance.

Of paramount importance is the exclusion of mutagenic factors, primarily radiation and chemical ones, including the influence of pharmacological preparations. It is extremely important to lead a healthy lifestyle in the broadest sense of the word: regularly engage in physical culture and sports, eat rationally, eliminate negative factors such as smoking, drinking alcohol, drugs, and toxic substances. After all, many of them have mutagenic properties.

Prevention of hereditary diseases includes a whole range of measures both to protect the human genetic fund by preventing exposure to the genetic apparatus of chemical and physical mutagens, and to prevent the birth of a fetus that has a defective gene that determines a particular hereditary disease.

The second task is especially difficult. To conclude about the probability of the appearance of a sick child in a given couple, one should know the genotypes of the parents well. If one of the spouses suffers from one of the dominant hereditary diseases, the risk of having a sick child in this family is 50%. If a child with a recessive hereditary disease was born to phenotypically healthy parents, the risk of re-birth of an affected child is 25%. This is a very high degree of risk, so further childbearing in such families is undesirable.

The issue is complicated by the fact that not all diseases manifest themselves in childhood. Some begin in adult, childbearing life, such as Huntington's chorea. Therefore, this subject, even before the detection of the disease, could have children, not suspecting that among them there may be patients in the future. Therefore, even before marriage, it is necessary to know firmly whether this subject is a carrier of a pathological gene. This is established by studying the pedigrees of married couples, a detailed examination of sick family members to exclude phenocopies, as well as clinical, biochemical and electrophysiological studies. It is necessary to take into account the critical periods in which a particular disease manifests itself, as well as the penetrance of a particular pathological gene. To answer all these questions, knowledge of clinical genetics is required.

Basic principles of treatment: exclusion or restriction of products, the transformation of which in the body in the absence of the necessary enzyme leads to a pathological condition; replacement therapy with an enzyme deficient in the body or with a normal end product of a distorted reaction; induction of deficient enzymes. Great importance is attached to the factor of timeliness of therapy. Therapy should be started before the patient develops severe disorders in those cases when the patient is still born phenotypically normal. Some biochemical defects may partially compensate with age or as a result of intervention. In the future, great hopes are placed on genetic engineering, which means targeted intervention in the structure and functioning of the genetic apparatus, the removal or correction of mutant genes, replacing them with normal ones.

Consider the methods of therapy:

The first method is diet therapy: the exclusion or addition of certain substances to the diet. Diets can serve as an example: with galactosemia, with phenylketonuria, with glycogenoses, etc.

The second method is the replacement of substances not synthesized in the body, the so-called substitution therapy. In diabetes, insulin is used. Other examples of substitution therapy are also known: the introduction of antihemophilic globulin in hemophilia, gamma globulin in immunodeficiency states, etc.

The third method is the mediometosis effect, the main task of which is to influence the mechanisms of enzyme synthesis. For example, the appointment of barbiturates in Crigler-Nayar disease contributes to the induction of the synthesis of the enzyme glucuronyl transferase. Vitamin B6 activates the enzyme cystathionine synthetase and has a therapeutic effect in homocystinuria.

The fourth method is the exclusion from the use of drugs, such as barbiturates for porphyria, sulfonamides for glucose-6-phosphate dehydrogenase.

The fifth method is surgical treatment. First of all, this applies to new methods of plastic and reconstructive surgery (cleft lip and palate, various bone defects and deformities).

Socio-legal aspect of the prevention of certain hereditary diseases and congenital malformations in humans

The state policy in the field of prevention of certain hereditary diseases and congenital malformations in humans is an integral part of the state policy in the field of protecting the health of citizens and is aimed at the prevention, timely detection, diagnosis and treatment of phenylketonuria, congenital hypothyroidism, adrenogenital syndrome and congenital malformations of the fetus in pregnant women .

The state policy in the field of prevention of hereditary diseases and congenital malformations in humans specified in this law is based on the principles of public health protection established by law.

In the field of prevention of hereditary diseases and congenital malformations in humans, the state guarantees:

a) availability for citizens to diagnose phenylketonuria, congenital hypothyroidism, adrenogenital syndrome, congenital malformations of the fetus in pregnant women;

b) free carrying out of the specified diagnostics in the organizations of the state and municipal systems of health care;

c) development, financing and implementation of targeted programs for the organization of medical genetic assistance to the population;

d) quality control, efficiency and safety of preventive and treatment-diagnostic care;

e) support for scientific research in the development of new methods for the prevention, diagnosis and treatment of hereditary diseases and congenital malformations in humans;

f) inclusion in the state educational standards for the training of medical workers of the issues of prevention of hereditary diseases and congenital malformations in humans.

Citizens in the implementation of the prevention of hereditary diseases and congenital malformations in humans specified in this law have the right to:

a) obtaining from medical workers timely, complete and objective information about the need for preventive and therapeutic and diagnostic care, the consequences of refusing it;

b) receiving preventive assistance in order to prevent the hereditary diseases specified in this Law in offspring and the birth of children with congenital malformations;

c) keeping confidential information about the state of health, diagnosis and other information obtained during his examination and treatment;

d) free medical examinations and examinations in state and municipal institutions, healthcare organizations;

e) free drug provision in case of phenylketonuria.

2. Citizens are obliged:

a) take care of and be responsible for their own health, as well as for the health of their offspring;

b) if there are hereditary diseases in the genus or family that lead to disability and mortality, contact the medical genetic service in a timely manner;

Responsibilities of medical professionals

Medical professionals are required to:

a) observe professional ethics;

b) to keep confidential information about the patient's hereditary diseases;

c) carry out activities for the diagnosis, detection, treatment of phenylketonuria, congenital hypothyroidism, adrenogenital syndrome in newborn children, clinical examination of newborns, as well as for the diagnosis of congenital malformations of the fetus in pregnant women.

Conclusion

The nature of inheritance of traits, such as weight, height, blood pressure, resistance or predisposition to various diseases, is determined by the complex interaction of genes involved in their formation. At the same time, to a large extent, the development of these features depends on the influence and impact of the environment.

The manifestation of heredity before the age of self-awareness proceeds as if automatically, completely under the influence of the environment provided by the parents. From the moment of self-awareness, a person acquires the ability to influence the course of his own development, mental and motor activity. The heredity of a person cannot be considered separately from the integrity of his physical essence, therefore, the use of physical education means, to one degree or another, undoubtedly has an impact on maintaining human health. The question is only how to determine the adequacy of the use of physical culture, so as not to cause harm. Recall the main means of physical culture. These are hygiene, tempering procedures and physical exercises. It must be remembered that hygiene is not only a guarantee of health and vigor, but also a necessary condition for preventing injuries, getting the maximum benefit from each training session.
If physical exercises are built reasonably, loads increase gradually, rest intervals provide normal and timely restoration of strength and energy, then they cannot be the cause of illness and injury. Only with the wrong regimen and training methodology, the use of excessive loads, training in a painful state or other violations of the regimen (combinations of great physical and mental stress, alcohol and drug use, sleep disturbance, diet, etc.), various disorders may occur, accompanied by a decrease in performance, which adversely affects human health.

Bibliographic list

1) N.P. Sokolov. "Human Hereditary Diseases". Edition: Moscow, "Medicine", 1965

2) “Great Soviet Encyclopedia”, 2, 16, 17 volumes. Editor-in-Chief A.M. Prokhorov. Edition: Moscow Publisher: "Soviet encyclopedia", 1974.

3) Popov S.V. Valeology at school and at home (On the physical well-being of schoolchildren). - St. Petersburg: SOYUZ, 2007. - 256 p.

4) Bochkov N.P. Human genetics (Heredity and pathology) - M., 1978

5) Ginter A.V. Hereditary diseases in human populations. – M.: Medicine, 2002.

6) Kozlova S.I. Hereditary syndromes and medical genetic counseling - M., 1996