[Variety of hereditary diseases in the Adygei Autonomous Region]. / Raznoobrazie nasledstvennykh boleznei v Adygeniskoi Avtonomnoi oblasti.

This report is one of the series of communications dedicated to medico-genetical description of the Adyg population in the autonomous national district. The peculiarities have been considered of the forms of hereditary diseases both in the Adyg and Russian populations neighbouring each other in the Adyg national district territory. It was inferred that the minimal distance between Adyg and Russian populations consists in the level of aggregation and variety of autosomal-recessive forms which depended on subdivision and the level of inbreeding in the populations studied.

[Correction for the estimated load of hereditary diseases in the population of the Krasnodarsk district]. / Popravka k otsenke gruza nasledstvennykh boleznei v populiatsii krasnodarskogo kraia.

Medico-genetical examination of children from 6 invalid houses, 2 asylum houses, 3 internate schools and 1 house for deaf and feeble-hearing children as well as from the internate school for children with poor vision was undertaken in Krasnodar district. 10.6% of the children were found to have chromosomal abnormality, 26.5%--multifactorial pathology and 62.9% of children were affected by monogenic diseases. The spectrum of diseases covers 20 forms, 8 of them being autosomal-dominant, 10--autosomal-recessive and 2--X-linked forms. A "selective" method presented in this article for revealing patients affected by genetical diseases in specialised institutions permitted to evaluate a portion of the patients having been not identified when using the "survey" expeditional method of population--epidemiological study of the district population. This portion constitutes 19%. The more accurate values of genetic load in populations of Krasnodar district were obtained, being 1.06-0.06 for autosomal-dominant, 0.78-0.05 for autosomal-recessive and 0.38-0.05 for X-linked diseases per thousand.

[Load of hereditary diseases in the populations of the Adyg autonomic district]. / Gruz nasledstvennykh boleznei v populiatsiiakh adygeiskoi avtonomnoi oblasti.

Comparative analysis of the loads of hereditary diseases in two ethnically different populations coexisting in the Adyg national district was performed. The modes of inheritance of diseases studied were tested by segregational analysis. The results obtained demonstrated that the load of autosomal-recessive diseases in the populations of the Adyg national district is higher than that in Russian population, while the load of autosomal-dominant diseases is similar in two populations. This difference in the level of the loads appear to be connected with genetic structure of the populations studied. Regressional analysis of relations between loads and the level of inbreeding in the Adyg population showed the explicit interrelation between the load of autosomal-dominant diseases and the Fst correlation coefficient being 0.89.

[Spectrum and territorial distribution of hereditary diseases in the population of the Krasnodar Krai]. / Spektr i territorial'noe rasprostranenie nasledstvennykh boleznei v populiatsiiakh Krasnodarskogo Kraia.

The analysis of the spectrum of hereditary diseases in the population of the Krasnodar province is performed and the influence of the population dynamics factors on the spectrum is discussed. More than 130 nosological forms were discovered in the population of approx. 200,000. Among these, there are 63 autosomal dominant, 49 autosomal recessive and 17 X-linked recessive forms. Of the most frequent autosomal dominant diseases (more than 1 per 50,000) autosomal recessive and X-linked recessive disorders 13, 7 and 7 forms, respectively, were picked up. The coefficient of diversity of hereditary diseases (the number of nosological forms per 10 inhabitants) with different types of inheritance is higher in the Krasnodar population, as compared with the Kostroma population. The problem of similarity of the "nucleus" of autosomal-recessive disorders in Russian populations is discussed.

[Marital and migration structure and inbreeding in the Adyg population]. / Brachno-migratsionnaia struktura i koéffitsient inbridinga v Aldygeiskoi populiatsii.

Endogamy and gametic indices for both Russian and Adyg populations living in the Adyg autonomous region of Krasnodar district were determined on different levels of territorial units: village, rural, community (a group of villagers) and rural region. Inbreeding coefficient was estimated for Adyg population and its structure analysed: a random component contributes mostly to the inbreeding coefficient (Fst = 0.00991), non-random component of the inbreeding coefficient being Fis = 0.010009, which testifies to negative marital assortativity among Adygs. Local inbreeding "a" and decline in the inbreeding "phi" coefficient at a distance from 0 to 500 km were calculated using the Malecot's formula: the coefficient "a" was found to be 0.00397, which is in good accordance with the Fst.

[Genetic load of hereditary diseases in populations of the Krasnodar Krai]. / Gruz nasledstvennykh boleznei v populiatsiiakh Krasnodarskogo Kraia.

Medico-genetical study of populations living in Krasnodar district was carried out. The mean value of genetic load contributed by autosomal dominant diseases composed 0.92 +/- 0.06, this value being 0.56 +/- 0.04 for autosomal recessive and 0.36 +/- 0.05 for X-linked recessive disorders per one thousand. Comparative analysis of genetical load in urban and rural populations demonstrated that they had no differences in relation to genetical load contributed by autosomal recessive and X-linked recessive disorders. At the same time, significant differences were noted between the populations concerning genetic load contributed by autosomal-dominant disorders.

[Genetic-demographic structure of the Adyg population]. / Genetiko-demograficheskaia struktura populiatsii Adygei.

The results of comparative analysis of series of genetical and demographical parameters in two ethnically distinct populations coexisting in Adyg autonomous region of the Krasnodar district are presented. The parameters of population structure in Russians and Adygs were determined, such as sex and age distribution, ethnical marital assortativity, vital statistics and selection pressure. The analysis revealed that the populations only differ in the level of ethnical marital assortment: the coefficient of assortativity H is 2.54 and 1.55 for Adygs and Russians, respectively.

[Analysis of the structure of the urban and rural populations of the central portion of Krasnodar Krai]. / Analiz struktury gorodskikh i sel'skikh populiatsii tsentral'noi chasti krasnodarskogo kraia.

The structure of the populations in Korenovsk and Ust-Labinsk districts--sexual, age, family and migrant is described Reproduction is low in these populations. The after-reproduction age class in rural populations prevailed, which affects the ratio of recessive and dominant forms in hereditary pathology of these populations. Family planning in towns accounts for small size of the families and decrease of the role of natural selection. Gametic and endogamy indexes for these populations indicate that intensive migrant processes take place in populations studied, as shown by the level of recessive pathology. The results obtained can be used in the medical-genetic studies for this territory.

PIP: To evaluate the pattern of Mendelian hereditary pathology in Krasnodav Krai, the demographic structure of two populations from the central part of Krasnodav Krai (Korenovsk and Ust'-Labinsk regions) was studied. THe age structure of the rural population was characterized by a predominance of the 47 year-old age group (0.406 compared with 0.262 and 0.332 for 0-18 and 19-46 year old age groups, respectively). The prevalence of an adult population resulted in the prevalence of autosome dominant diseases (0.92/1000, compared with 0.56/1000 for autosome recessive diseases). Family size and pregnancy outcomes were analyzed in 170 women who were past the reproductive age. Relatively small average family size (2.06) was indicative of active family planning regulated primarily by the means of induced abortions (3.69/woman). the length of generation calculated from the data on age-dependent fertility was 29.17 years for men and 19.12 years for women. The index of total selection calculated from the Crow index for pregnancy outcomes was 0.653, which was indicative of a less marked contribution of differential mortality and differential fertility to the intensity of natural selection. The endogamy indices for the urban populations of Korenovsk and Ust'-Labinsk regions were 0.174 and 0.195, respectively, while for the rural population of Ust'-Labinsk region, the endogamy index was 0.364. The gamete index for Korenovsk region was 0.142. The calculated values of gamete and endogamy indices were indicative of intensive migration processes, weak isolation by distance, and minimal inbreeding.

[The use of DNA from phage M13 for the analysis of interindividual polymorphism of human DNA as demonstrated by a population study in Krasnodar city]. / Ispol'zovanie DNK faga M13 dlia analiza mezhindividual'nogo polimorfizma DNK cheloveka na primere izucheniia populiatsii g. Krasnodara.

Hypervariable "minisatellite" regions detected in human genome by wild-type M13 DNA were found to have high polymorphism and somatic stability. Analysis of individual specific patterns of 34 human DNAs from Krasnodar population is presented. The observed length of fragments ranged from 2 to 6 kb. The mean frequency of a fragment in the population under study is p = 0.247 +/- 0.171, the mean number of fragments per individual being x = 9.35 +/- 1.95. The mean probability of individual identification is calculated to be 1-2.10(-6) = 0.999998.

[Medico-genetic study of the residents of Krasnodar territory. Incidence of hemoglobinopathies]. / Mediko-geneticheskoe izuchenie naseleniia krasnodarskogo kraia. Rasprostranenie gemoglobinopatii.

Data on distribution of various types of hemoglobinopathies in the Krasnodar region are presented. This region was unfavourable, due to malaria in the past. The results obtained allow to conclude that the territory needs more attention as a possible focus of beta-thalassemia in our country.