The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)

The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.     

The Structure and Diversity of Hereditary Pathology in Sakha Republic (Yakutia)

The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.     

The Load of Hereditary Diseases in the Population of Republic of Sakha (Yakutia)

Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1 000 700 individuals (including 424 500 of urban and 576 200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined.     

The population structure of rural settlements of Sakha Republic (Yakutia): Migration

Migration and gametic structure have been analyzed in rural population of Sakha Republic (Yakutia). The populations studied differ from one another in the migration rate and direction, which are determined by the socioeconomic development of the regions and ethnic composition of settlements. A high rate of long-distance migrations and a low rate of migrations within uluses (districts) are characteristic of regions with well-developed industry and transportation and are more characteristic of immigrant than indigenous populations. In rural regions, migrations within uluses are more prevalent. The gametic structure of the youngest age group does not always correspond to the migration activity of previous generations. The migration effectiveness values (the correspondence of migration flows to the gametic structure depending on the geographic origin of the gametes) are different for men and women.     

The population structure of rural settlements of Sakha Republic (Yakutia): migration

Migration and gametic structure have been analyzed in rural population of Sakha Republic (Yakutia). The populations studied differ from one another in the migration rate and direction, which are determined by the socioeconomic development of the regions and ethnic composition of settlements. A high rate of long-distance migrations and a low rate of migrations within uluses (districts) are characteristic of regions with well-developed industry and transportation and are more characteristic of immigrant than indigenous populations. In rural regions, migrations within uluses are more prevalent. The gametic structure of the youngest age group does not always correspond to the migration activity of previous generations. The migration effectiveness values (the correspondence of migration flows to the gametic structure depending on the geographic origin of the gametes) are different for men and women.     

Analysis of Marital Migrations in Two Ouluses of the Republic of Sakha (Yakutia)

The marital migration structure of two ouluses (administrative districts) of the Republic of Sakha (Yakutia) that have long been populated by three ethnic groups were studied on the basis of marriage records. Population genetic characteristics were calculated for each ethnic group. The ethnic assortativeness values were 30.9 in Evens, 1.36 and 4.46 in Russians, and 1.03 and 4.51 in Yakuts. The endogamy indices for the oulus and republican ethnic populations, respectively, were 0.83 and 1.0 in Evens, 0.41 and 0.99 in Yakuts, and 0.08 and 0.14 in Russians. The parameters of isolation by distance were the following: a = 0.0013 and b = 0.0020 in the Gornyi oulus; a= 0.0048 and b = 0.0014 in the Krest-Khaldzhai rural municipality;a = 0.0086 and b = 0.0095 in the Topolinoe rural municipality; anda= 0.0106 and b= 0.0013 in the Megino-Aldan rural municipality.     

Population structure of rural settlements of Sakha Republic (Yakutia): Surname structure

The distributions of surnames have been studied in 12 rural ethnic territorial groups of Sakha Republic (Yakutia). The populations studied are characterized by considerable accumulation of individual surnames, the surname spectra of representative of different ethnic groups living in the same area substantially overlapping. The random isonymy, migration index, surname diversity, and the surname distribution redundancy index display geographic and ethnic differences. The isonymy relationship coefficients calculated for representatives of individual ethnic groups (Yakuts, Evens, and Russians) and for total populations of the settlements studied are determined by the geographic distances between the compared populations and the intensity of migrations.     

Population structure of rural settlements of Sakha Republic (Yakutia): surname structure

The distributions of surnames have been studied in 12 rural ethnic territorial groups of Sakha Republic (Yakutia). The populations studied are characterized by considerable accumulation of individual surnames, the surname spectra of representative of different ethnic groups living in the same area substantially overlapping. The random isonymy, migration index, surname diversity, and the surname distribution redundancy index display geographic and ethnic differences. The isonymy relationship coefficients calculated for representatives of individual ethnic groups (Yakuts, Evens, and Russians) and for total populations of the settlements studied are determined by the geographic distances between the compared populations and the intensity of migrations.     

New data on the water mite fauna (Acari,Hydrachnidia, Halacaroidea) of the Sakha Republic (Yakutia)

Examination of the water mite collection made by the authors in the territory of the Sakha Republic (Yakutia) in 2006 has revealed 43 mite species of the phalanx Hydrachnidia, belonging to 19 genera and 12 families, 1 species of the phalanx Trombidia, and 2 freshwater species of the superfamily Halacaroidea, belonging to 2 genera and 1 family. All the species registered, except for two species of the phalanx Hydrachnidia (Mixobates processifer and Lebertia porosa), were recorded in the Sakha Republic for the first time. The species Aturus miyashitai Uchida, 1934 and A. parapilosus Kim et Chung, 1993 (Hydrachnidia) and the family Johnstonianidae Thor, 1935 (Trombidia) are new for the Russian fauna. The female of A. parapilosus is described for the first time.     

Contribution to the fauna of blackflies of the tribe Simuliini (Diptera: Simuliidae) of the Sakha Republic (Yakutia)

The data on the fauna of blackflies of the tribe Simuliini (Diptera: Simuliidae) of the Sakha Republic (Yakutia) comprising the available literature, collections of the Zoological Institute of the Russian Academy of Sciences, and new material collected in Yakutia were analyzed. Three new species were recorded in the fauna of Yakutia: Archesimulium polare Rubzov, 1940, A. splendidum Rubzov, 1940, and A. tumulosum Rubzov, 1956. Distribution of 11 species was clarified. Processing of the collected material confirmed the presence of 9 blackfly species previously known from Yakutia. On the whole, the blackfly fauna of the region comprises 27 species.     

Gene pool of peoples from the Republic Sakha (Yakutia): Structure,origin, genetic relationships

The article presents the results of investigating the gene pool structure and genetic history of the population of the Republic Sakha (Yakutia), using two mutually supplementing genetic systems: mitochondrial DNA and the Y chromosome.     

Genetic Demographic Description of the Ust-Aldan Rural Population of Sakha Republic (Yakutia): Migrations and Marriage Structure

Migrations, dynamics of the gametic structure of rural populations, and marriage structure with respect to birthplaces and inbreeding estimated from isonymy have been studied in the Ust-Aldan ulus (administrative district) of Sakha Republic (Yakutia). The villages studied (Byadi, Dyupsya, and Cheriktey) are characterized by intense migration; however, the migration radius is small (most migrations occur within the district). The rural populations studied differ in the intensities and directions of gamete flows and their dynamics. There is no substantial gamete flow into the Ust-Aldan population from outside Sakha Republic. About 50% of marriages contracted in this population are homolocal (between residents of the same district); the endogamy is low (15%). In most cases of heterolocal marriages (contracted between residents of different districts), one of the spouses is a local resident. The inbreeding estimated from isonymy is F _IT = 0.002930 in Yakuts; it is mainly accounted for by the nonrandom component (F _IS = 0.002232 and F _ST = 0.000700).     

Genetic demographic description of the Ust-Aldan rural population of Sakha Republic (Yakutia): migrations and marriage structure

Migrations, dynamics of the gametic structure of rural populations, and marriage structure with respect to birthplaces and inbreeding estimated from isonymy have been studied in the Ust-Aldan ulus (administrative district) of Sakha Republic (Yakutia). The villages studied (Byadi, Dyupsya, and Cheriktey) are characterized by intense migration; however, the migration radius is small (most migrations occur within the district). The rural populations studied differ in the intensities and directions of gamete flows and their dynamics. There is no substantial gamete flow into the Ust-Aldan population from outside Sakha Republic. About 50% of marriages contracted in this population are homolocal (between residents of the same district); the endogamy is low (15%). In most cases of heterolocal marriages (contracted between residents of different districts), one of the spouses is a local resident. The inbreeding estimated from isonymy is FTT = 0.002930 in Yakuts; it is mainly accounted for by the nonrandom component (FIS = 0.002232 and FST = 0.000700).     

Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia

The allele frequency distribution of the (CTG)_n repeat located in the 3′-terminal region of the myotonin protein kinase gene (DMPK) was compared for populations of Yakutia (three ethnogeographic groups of Yakuts, Evenks, Evens, Yukaghirs, and Dolgans) and Central Asia (Kazakhs, Uzbeks, and Uighurs) and other ethnic groups. The populations of the two regions proved to considerably differ from each other: features characteristic of Asian Mongoloids were more distinct in the populations of Yakutia, while the Central Asian populations were closer to European populations. The (CTG)_n allele spectrum of Yakuts was considered in connection with the high incidence of myotonic dystrophy in Yakutia. The results support the hypothesis of the founder effect for the spread of myotonic dystrophy in Yakuts. Data on the (CTG)_n polymorphism were used to estimate the phylogenetic relationships of the populations under study.__________Translated from Molekulyarnaya Biologiya, Vol. 39, No. 3, 2005, pp. 385–393.Original Russian Text Copyright © 2005 by Fedorova, Khusainova, Kutuev, Sukhomyasova, Nikolaeva, Kulichkin, Akhmetova, Salimova, Svyatova, Berezina, Platonov, Khusnutdinova.     

Ethnogenetics of yakuts from three regions of Republic of Sakha (Yakutia) inferred from the frequencies of biochemical gene markers

Comparative data on the distribution of immunological markers (AB0 and RH), serum proteins (HP, TF, GC, PI, and C3), and red cell enzymes (PGM1, ACP1, ESD, and GLO1) polymorphisms in Yakut populations from three regions of the Republic are presented. Close genetic affinities of Yakuts to Altaians, Mongols, and Buryats along with their notable difference from Evenks, Evens, and Chukchi were demonstrated.     

The population structure of rural settlements of Sakha Republic (Yakutia): ethnic, sex, and age composition and vital statistics

The genetic demographic structure of 12 rural populations from eight uluses of Sakha Republic (Yakutia) has been analyzed. The ethnic, sex, and age composition of the population and the reproductive parameters of women that have completed and have not completed the reproductive period are reported. Crow's indices have been estimated in representatives of three indigenous ethnic groups (Yakuts, Evens, and Evenks).     

The population structure of rural settlements of Sakha Republic (Yakutia): Ethnic, sex, and age composition and vital statistics

The genetic demographic structure of 12 rural populations from eight uluses of Sakha Republic (Yakutia) has been analyzed. The ethnic, sex, and age composition of the population and the reproductive parameters of women that have completed and have not completed the reproductive period are reported. Crow’s indices have been estimated in representatives of three indigenous ethnic groups (Yakuts, Evens, and Evenks).     

Allelic polymorphism of six microsatellite DNA Loci in populations of Sakha (Yakutia)

The allele frequency distributions of six STR loci (D3S1358, D16S539, THOI, D8S1179, LPL, and HUMvWFII) used in forensic practice were analyzed in populations of Sakha (Yakutia): three ethnogeographical groups of Sakha (Yakuts), Evenks, Yukagirs, Dolgans, and Russians. There were significant differences between Russians and all other populations by five markers. The total discriminating power (PD) of the locus system studied was assessed for each population. The interpopulation genetic difference (F _ST) was 0.005. Data on the allelic polymorphism of the above STR loci were used to analyze phylogenetic relationships among the populations of Sakha and those of other regions: East Europe, South Siberia, Chukotka, and Kamchatka.