[Influence of urbanization level on the lethal load and on the intensity of natural selection in the Turkmen population]. / Vliianie urbanizatsii na letal'nuiu otiagoshchennost' i intensivnost' estestvennogo otbora v Turkmenskikh populiatsiiakh.

Dynamics of genetic load in aboriginal population of the Turkmen SSR was studied using two approaches to calculate "lethal" equivalents. Intensity and structure of natural selection were measured using the Crow's index and its components. All statistics indicated were determined using the data obtained in Ashkhabad city and in two rural populations of Ashkhabad region (Yasman and Nokhur) within the time interval prior to 60s and after 70s. The results obtained made it possible to subdivide the populations under study into three different groups according to different stages of demographic process: 1) urbanized population; 2) rural (transient) population; 3) "relict" rural population.

[Genetic structure of the population of Ashkhabad City of the Turkmen SSR]. / Populiatsionno-geneticheskaia struktura naseleniia g. Ashkhabada Turkmenskoi SSR.

Some genetical demographic characteristics of population of Ashkhabad city were studied by direct interviewing of women aged over 18 years. The influence of urbanization on the basic genetical-demographic indices was found, the indices being essentially different from those of rural population studied elsewhere. Analysis of intensity and the structure of marriage migrations showed considerable ethnic subdivision in Ashkhabad population and stability of marriage policy in an every ethnic group. The level and structure of inbreeding as well as positive marriage assortativity are of the same order as in the Turkmen rural population.

[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.

[Reconstruction of genetic distance matrix]. / Rekonstruktsiia matritsy geneticheskikh rasstoianii.

A method for reconstruction of genetic distances' matrix, based on linear combination of physical distances' matrices among populations and mean sizes of the population matrices is proposed. The analogue of genetic distances' matrix obtained correlates with the matrix at the level 0.59. The reconstruction may be used for the populations of about 2-3 neighbour districts. An index xi is introduced, as a constant describing some big regions. Comparison of reconstructed matrix of genetic distances with some well-known matrices of genetic distances is performed.

[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.

[Medico-genetic study of the Kostroma Region population. VIII. Genetic structure of large subdivided populations and its relation with the incidence of autosomal-recessive pathology]. / Mediko-geneticheskoe izuchenie naseleniia Kostromskoi oblasti. Soobshchenie VIII. Geneticheskaia struktura krupnykh podrazdelennykh populiatsii i ee sviaz' s rasprostranennost'iu autosomno-retsessivnoi patologii.

FST was estimated for 67 communities and 6 small towns of Kostroma province. The mean FST value for rural and urban populations was (0.83 +/- 0.08).10(-3) and (0.29 +/- 0.07).10(-3), respectively. The connection between FST values and the load of autosomal-recessive disorders was established; the coefficient of correlation (by Chuprov) was 0.34 (chi 2 = 8.45; P less than 0.05). The matrices of genetic distances for two groups of districts of Kostroma province, based on surnames frequencies, were calculated. Dendrogramms were constructed using genetic distances, which reflect the degree of genetical similarity of the populations. The conclusion drawn from the analysis of these dendrogramms is that there is distinct isolation by distance in populations of Kostroma province. It is shown that genetical subdivision of populations is dependent on geographical and some other factors and on the load of autosomal-recessive pathology in the population.

[Medico-genetic study of the Kostroma Region population. IX. Interpretation of the genetic distance matrix]. / Mediko-geneticheskoe izuchenie naseleniia Kostromskoi oblasti. Soobshchenie IX. Interpretatsiia matritsy geneticheskikh rasstoianii.

Two kinds of matrices of genetic distances were compared. The first originate from the distribution of surnames frequencies in communities of some districts of Kostroma province. The others were constructed, based on the population size and the physical distances between populations. Essential similarity in results obtained by these two methods was noted. The differences arise, due to the elements of infrastructure in the real populations which are not taken into account using the second method.

[Medico-genetic study of the population of Kostroma Province. VI. The parameters of isolation by distance in the populations of the Bui and Shar'ya Districts of Kostroma Province]. / Mediko-geneticheskoe izuchenie naseleniia Kostromskoi oblasti. Soobshchenie VI. Parametry izoliatsii rasstoianiem v populiatsiiakh Buiskogo i Shar'inskogo raionov Kostromskoi oblasti.

A model of isolation by distance proposed by Malécot and developed by Morton is applied to the data on marriage distances collected in two regions of Kostroma Province. There is good agreement between the estimates of local inbreeding when using the isonymy method and the model of isolation by distance. Interpopulation kinship approaches 0 at the distance 700 km. The mean coefficient of kinship for parents in the families with autosomal-recessive pathology is 20 times higher than mean coefficient of kinship in the population.

[Heritability of fertility in human populations and the structure of Crow's index]. / Nasleduemost' plodovitosti v populiatsiiakh cheloveka i struktura indeksa Krou.

Heritability of fertility was determined in populations with natural character of reproduction (Middle Asia Republics) and in populations with family planning (Middle Russia). The material was collected by interviewing the married women of postreproductive age. The heritability of fertility was estimated as a doubled coefficient of correlations between sisters for effective fertility. In populations with natural character of reproduction the heritability was about 50% and it did not differ from O in the populations with family planning. The values of heritability were used in the components of the Crow index analysis. The main contribution into broad-sense heritability of fertility comes from additive component, as shown in an Asia population (Turkmen). The values of heritability of fecundability (86%) and of postpartum sterility (66%) have been calculated for the same population.

[Population genetics study of hemoglobinopathies in Uzbekistan. II. Population dynamics of hemoglobinopathies]. / Populiatsionno-geneticheskie issledovaniia gemoglobinopatii v Uzbekistane. Soobshchenie II. Populiatsionnaia dinamika gemoglobinopatii.

It was shown that on comparing variability of selective neutral genetic marker systems with that of the beta-thalassemia system for the populations of different hierarchical level, the relative importance of selection and genetic drift could be evaluated. The genetic differentiation of the beta-thalassemia gene frequencies in elementary populations (villages) could be solely explained by genetic drift. On the other hand, the differentiation of district populations (the sizes of the populations being 10(6] for beta-thalassemia gene frequencies could be explained by selection forces. This is supported by the fact that the genetic distances and FST values are only significant for the beta-thalassemia gene and not for the neutral genetic systems, when the district populations are compared.

[The structure of the inbreeding coefficient in a rural Asian population]. / Struktura koéffitsienta inbridinga v sel'skoi aziatskoi populiatsii

The population-genetic study of an elementary rural population located in the Urgut district of Samarcand province was carried out. The pedigree for the whole population starting from the founders was evaluated. From 208 marriages presented in the population, 148 (71.2%) were consanguineous. The mean coefficient of inbreeding calculated from the pedigree was 0.028. A new approach to the evaluation of marital assortativity in a rural Uzbek population without tribial differentiation and inherited surnames was proposed. It consists in awarding artificial surnames to the founders of the population. Applying this approach to the population under study gives following values of F-statistics: FIT = 0.031, FIS = 0.01841, FST = 0.01282.

[Medico-genetical study of the Uzbekistan population. IX. Variability of hereditary pathology, territorial distribution of hereditary diseases and hereditary disease load in the population of the Urgut district of the Samarkand region]. / Mediko-geneticheskoe izuchenie naseleniia Uzbekistana. Soobshchenie IX. Raznoobrazie nasledstvennoi patologii, territorial'noe raspredelenie nasledstvennykh boleznei i otiagoshchennost' nasledstvennoi patologiei naseleniia Urgutskogo raiona Samarkandskoi oblasti.

Medical-genetic study was carried out in the population of Samarkand province (the population size about 150 000). Hereditary pathology was ascertained among families with two or more affected members with chronic diseases. 110 families with 210 patients were registered. The most frequent were autosomal-recessive disorders (42 nozological forms). 15 nozological forms are probably "new" conditions in this province, because they were absent in our previous medical-genetic study of this province. A tendency to local accumulation of families with the same disorder in small populations was observed. The load of autosomal-recessive disorders comprised 2.2 X 10(-3) affected, that of autosomal-dominant disorders being 0.51 X 10(-3) and of X-linked disorders being 0.25 X 10(-3) males. The importance of assortative maitings in manifestation of rare autosomal-recessive genes in Uzbek population is discussed.

[Suitability of Russian surnames as a "quasi-genetic" marker]. / Prigodnost' russkikh familii v kachestve "kvazigeneticheskogo" markera.

The possible usefulness of Russian surnames as a quasi-genetic marker in the population study is analysed. Two approaches for the populations of different hierarchical levels are used. The coefficients of correlations between the matrices of genetical (based on gene frequencies in the populations) and quasi-genetical (based on surnames frequencies in the populations) distances were determined. The mean correlation coefficient is 0.315 +/- 0.15. Genetical and quasi-genetical distances and the level of gamete exchange between populations are connected, being reversely dependent. The mean correlation coefficients are: -0.63 +/- 0.13 and -0.23 +/- 0.16. The correlation coefficient for matrices of quasi-genetical and geographical distances was 0.39 +/- 0.08, this being -0.42 +/- 0.08 for matrices of quasi-genetical distance and geometrical mean of population dimensions. It is shown that surnames can replace genetic markers in description of the population genetic structure and in the study of the processes influencing this structure.

[Medico-genetic study of the population of Uzbekistan. VIII. Territorial distribution of hereditary diseases in the population of four regions of the Khorezm province and its genetic load]. / Mediko-geneticheskoe izuchenie naseleniia Uzbekistana. Soobshchenie VIII. Territorial'noe raspredelenie nasledstvennykh boleznei v naselenii chetyrekh raionov Khorezmskoi oblasti i ego otiagoshchennost' nasledstvennoi patologiei.

The load of hereditary diseases was estimated on the basis of data obtained during medical-genetic study of the population of four districts of Khorezm province. The load of autosomal recessive disorders comprised 2-3 X 10(-3) affected, that of autosomal dominant disorders - 0.4-0.5 X 10(-3) and that of X-linked disorders - 0.2-0.4 X 10(-3) males. The main part of patients with autosomal recessive disorders belonged to separate families randomly spread over the populations. A trend for local accumulation of families with the same disorder was observed in small populations. It was shown that overall frequency of autosomal recessive genes per individual increased with the increase in the population size.

[Medico-genetic study of the population of Uzbekistan. VII. Variability of hereditary pathology in 4 regions of Khorezm province]. / Mediko-geneticheskoe izuchenie naseleniia Uzbekistana. Soobshchenie VII. Raznoobrazie nasledstvennoi patologii v chetyrekh raionakh Khorezmskoi oblasti.

Medical-genetic study was carried out in the population of Khorezm province (population size above 200 000 persons). Hereditary pathology was ascertained among families having two or more members affected with chronic non-infectious diseases. 155 families with 348 members affected with hereditary diseases were registered. The most frequent were autosomal recessive diseases (55 nosological forms in 104 families with 271 affected), then followed the autosomal dominant conditions (10 nosological forms in 21 families with 53 affected). The less frequent was X-linked recessive pathology (6 forms in 12 families with 20 affected). The main part of cases of autosomal recessive pathology were found in separate families and were not observed during previous medical-genetic studies in Uzbekistan. Three autosomal recessive conditions are probably new forms of hereditary pathology. The important role of assortative matings in manifestation of rare autosomal recessive genes in Uzbek population is discussed.