Time Dynamics of Ethnic Assortativeness in Tsivil'sk Raion of Chuvashia

Based on marriage records for 1950–1959, 1970–1979, and 1990–1999, ethnic assortativeness of Chuvash and Russian inhabitants of Tsivil'sk raion of the Chuvash Republic was calculated. It was shown that in half a century ethnic assortativeness of Chuvashes did not change (1.18, 1.15, and 1.15), while in Russians a clear downward trend was observed (4.20, 2.18, and 1.28). The data on ethnic assortativeness obtained were compared with those for the same populations from other regions of the Chuvashia examined earlier.     

Genetic demography of the Kuznetsk Basin population: changes in marriage assortativeness with respect to ethnicity and age in the Belovo city population with time

A genetic demographic study has been performed in the city of Belovo with the use of the data on marriages contracted there in 1970 and 1994-1999. Marriage assortativeness with respect to age has been found to be the strongest and remain unchanged during the lifetime of one generation (r = 0.730 in 1970 and r = 0.801 in 1994-1999). Monoethnic marriages were substantially more frequent than interethnic ones in the Belovo population during the period studied, although the ethnic marriage assortativeness considerably decreased (K = 0.386 in 1970 and K = 0.141 in 1994-1999). Panmixia has been observed in the Russian population of Belovo. Other Eastern Slavs (Ukrainians and Belarussians) are characterized by negative marriage assortativeness and panmixia; positive marriage assortativeness has been found in other ethnic groups.     

Characterization of the Marriage Structure and Migration in Chuvashes

Parameters of the marriage structure and migration were analyzed on the basis of marriage records in the Kanash, Cheboksary, and Morgaushi raions of the Chuvash Republic. Ethnic assortativeness was not detected in Chuvashes and was 4.16–18.05 in Russians. Gene flow between Chuvashes and Russians was 5.1–8.3%; the degree of endogamy was 0.61–0.70.     

Genetic Demography of the Kuznetsk Basin Population: Changes in Marriage Assortativeness with Respect to Ethnicity and Age in the Belovo City Population with Time

A genetic demographic study has been performed in the city of Belovo with the use of the data on marriages contracted there in 1970 and 1994–1999. Marriage assortativeness with respect to age has been found to be the strongest and remain unchanged during the lifetime of one generation (r = 0.730 in 1970 and r = 0.801 in 1994–1999). Monoethnic marriages were substantially more frequent than interethnic ones in the Belovo population during the period studied, although the ethnic marriage assortativeness considerably decreased (K = 0.386 in 1970 and K = 0.141 in 1994–1999). Panmixia has been observed in the Russian population of Belovo. Other Eastern Slavs (Ukrainians and Belarussians) are characterized by negative marriage assortativeness and panmixia; positive marriage assortativeness has been found in other ethnic groups.__________Translated from Genetika, Vol. 41, No. 7, 2005, pp. 938–942.Original Russian Text Copyright © 2005 by Lavryashina, Ulyanova.     

Tetranucleotide Tandem Repeat Polymorphism of the CFTR Intron 6B in Populations of the Volga–Ural Region

The allele and genotype frequencies of the tetranucleotide tandem repeat (TTR) of CFTR intron 6B were analyzed in eight ethnic populations of the Volga–Ural region, including Bashkir, Tatar, Chuvash, Mari, Mordvinian, Udmurt, Komi-Permyak, and Russian. The most common TTR allele 7 varied in frequency from 0.636 in Chuvash to 0.805 in Mordvinians. The frequency of the second common allele 7 ranged from 0.188 in Mordvinians to 0.333 in Chuvash. Allele 8 was found in about 8% of Udmurts and Mari; occurred in a few Bashkirs, Tatars, Mordvinians, and Komi-Permyaks; and was not observed in Russians. The genetic diversity coefficient was minimal in Mordvinians (0.496) and in Tatars (0.505), indicating their low heterogeneity in TTR. The observed heterozygosity was maximal in Udmurts (0.532) and Komi-Permyaks (0.560) and minimal in Mordvinians (0.297). In total, the populations proved to be heterogeneous in TTR allele frequency distribution, the interpopulation difference being significant in most cases.     

Tetranucleotide tandem repeat polymorphism of the CFTR gene intron 6B in populations of the Volga-Ural region

The allele and genotype frequencies of the tetranucleotide tandem repeat (TTR) of CFTR intron 6B were analyzed in eight ethnic populations of the Volga-Ural region, including Bashkir, Tatar, Chuvash, Mari, Mordvinian, Udmurt, Komi-Permyak, and Russian. The most common TTR allele 7 varied in frequency from 0.636 in Chuvash to 0.805 in Mordvinians. The frequency of the second common allele 7 ranged from 0.188 in Mordvinians to 0.333 in Chuvash. Allele 8 was found in about 8% of Udmurts and Mari; occurred in a few Bashkirs, Tatars, Mordvinians, and Komi-Permyaks; and was not observed in Russians. The genetic diversity coefficient was minimal in Mordvinians (0.496) and in Tatars (0.505), indicating their low heterogeneity in TTR. The observed heterozygosity was maximal in Udmurts (0.532) and Komi-Permyaks (0.560) and minimal in Mordvinians (0.297). In total, the populations proved to be heterogeneous in TTR allele frequency distribution, the interpopulation difference being significant in most cases.     

Genetic demographic characteristics of the rural population of the Tuva Republic: marriage structure and inbreeding]

Marriage structure was studied in three rural populations of the Tuva Republic: the Shinaan population and the populations of Todzhinskii and Bai-Taiginskii raions (districts). The Shinaan and Bai-Taiginskii populations had high levels of endogamy (0.6704 and 0.6050, respectively). In the Todzhinskii population, which was characterized by a mixed ethnic composition, endogamy was 0.3779 for the total population and 0.4626 for Tuvinians; interethnic marriages in this population were rare. The values of marriage assortativeness with respect to birthplace were 19.38, 40.75, 75.87, and 41.87% in the Shinaan, Bai-Taiginskii, all the Todzhinskii populations, and Tuvinian monoethnic marriages in the Todzhinskii raion, respectively. High marriage assortativeness with respect to ethnicity was found. Its values (A') were 91.85 and 93.49% in Tuvinians and Russians, respectively. Tuvinian populations were characterized by high inbreeding. The total (F(it)), random (Fst), and nonrandom inbreeding (Fis) estimated by isonymy were 0.004237, 0.002298, and 0.001944 in the Shinaan population, 0.007292, 0.009448, and -0.002177 in the Bai-Taiginskii population, and 0.003846, 0.004152, and -0.000307 in the Todzhinskii population, respectively (in the latter populations, the F(it), Fst, and Fis values for Tuvinian marriages alone were 0.005000, 0.007222, and -0.002238, respectively). The results obtained indicate that individual territorial groups of Tuvinians retain a high degree of genetic isolation from one another.     

Population-genetic structure of Chuvashia (from data on eight DNA loci in the nuclear genome)

Population-genetic study of indigenous populations representing three ethnic Chuvash group: highland (Cheboksarsk and Morgaush district), lowland (Kanash district) and mid-lowland (Marposad district). Eight polymorphic DNA loci of the nuclear genome (VNTR/PAH, STR/PAH, VNTR/ApoB, VNTR/DAT1, APF, VNTR/eNOS, IVS6aGATT, and KM.19/PstI) were examined in the population of each district. For each of the four population, we estimated the allele and genotype frequency distributions at each polymorphic system, heterozygosities HS and between-population differences FST. In the combined Chuvash sample, HS = 0.464 and FST = 0.006. Loci VNTR(DAT) and VNTR(ApoB) showed highest between-population differentiation (0.009 < or = FST < or = 0.012), and loci IVS6aGATT, APF, VNTR/eNOS, and D7S23 (KM.19), lowest differentiation (0.001 < or = FST < or = 0.003). Analysis of genetic distances revealed somewhat higher genetic similarity between the Cheboksarsk and Morgaush populations belonging to the highland Chuvash group, whereas the highland Chuvash population from the Marposad district, which belong to the mid-lowland group, was more distant from the former populations.     

Analysis of marital migrations in two regions in the Sakh republic (Iakutiia)

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; and a = 0.0106 and b = 0.0013 in the Megino-Aldan rural municipality.     

Population genetic study of the Alatyr region of the Republic of Chuvashiia

Population genetic characteristics were estimated in the Alatyr' raion (administrative district) of the Republic of Chuvashia, which has long been populated by three ethnic groups. The ethnic assortativeness values in the town of Alatyr' and the rural area of the district were 1.17 and 1.21, respectively, for Russians; 1.14 and 4.82, respectively, for Chuvashes; and 1.33 and 2.45, respectively, for Mordovians. Wright's statistics were as follows: Fst = 0.00358, Fit = 0.00178, and Fis = 0.00134. The migration indices were 0.0264 for Alatyr' and 0.0178 for the district. The endogamy indices for the total and the Russian populations of Alatyr' were 0.47 and 0.53, respectively. The parameters of isolation by distance were a = 0.000189 and b = 0.00959 for the urban and a = 0.000318 and b = 0.00919 for the rural area. Schemes of the genetic landscape were constructed. The influence of the polyethnic composition on the genetic structure of the population is discussed.     

The marriage migration characteristics of the Rostov oblast population

Marriage records have been used to study the marriage migration structure of five raions of the Rostov oblast. The mean ethnic marriage assortativeness in the Russian and Ukrainian rural populations are 1.16 and 1.6, respectively. The endogamy index of the urban population varies from 0.19 to 0.34; and that of the rural population, from 0.21 to 0.54. Malecot's isolation by distance parameters have been calculated. Genetic landscapes have been constructed.     

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.     

Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia

Chuvash polycythemia is a rare congenital form of polycythemia caused by homozygous R200W and H191D mutations in the VHL (von Hippel-Lindau) gene, whose gene product is the principal negative regulator of hypoxia-inducible factor. However, the molecular mechanisms underlying some of the hallmark abnormalities of Chuvash polycythemia, such as hypersensitivity to erythropoietin, are unclear. Here we show that VHL directly binds suppressor of cytokine signaling 1 (SOCS1) to form a heterodimeric E3 ligase that targets phosphorylated JAK2 (pJAK2) for ubiquitin-mediated destruction. In contrast, Chuvash polycythemia-associated VHL mutants have altered affinity for SOCS1 and do not engage with and degrade pJAK2. Systemic administration of a highly selective JAK2 inhibitor, TG101209, reversed the disease phenotype in Vhl(R200W/R200W) knock-in mice, an experimental model that recapitulates human Chuvash polycythemia. These results show that VHL is a SOCS1-cooperative negative regulator of JAK2 and provide biochemical and preclinical support for JAK2-targeted therapy in individuals with Chuvash polycythemia.     

Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

Molecular genetic study of the CFTR gene in cystic fibrosis patients from the Chuvash Republic is presented. We found linkage disequilibrium of the disease with 22-7-16-13 haplotype using intragenic markers. Major mutation p.E92K was revealed in chromosomes carrying this haplotype. The frequency of this mutation in Chuvash patients was 66.6%. Population study of the distribution of two mutations (p.E92K and F508del) of the CFTR gene revealed that their population frequency in heterozygous carriers was one per 37 subjects while calculated cystic fibrosis frequency in Chuvashia is one per 5420 newborns.     

Marriage and migratory characteristics of the urban population of Karachay-Cherkessia (End of the 20th century)

As part of systematic research carried out by the Laboratory of Genetic Epidemiology of the Research Center for Medical Genetics, the marriage and migratory structure of the urban population of Karachay-Cherkessia was studied. Numerical estimates of the population-genetic parameters were obtained from 11346 marriage records for 1990–2000. The endogamy, ethnic assortativeness, miscegenation and local inbreeding intensities, and mean-square migration for the four cities Cherkessk, Karachayevsk, UstDzheguta, and Teberda were estimated. It is shown that the autochthonic urban population is highly miscegenated, despite the traditional preference for monoethnic marriages. Half of the Russian urban population is migrant; the autochthonic urban population is substantially formed of Karachay-Cherkessia natives of.     

Marriage-migration characteristics of the urban and rural populations of Udmurtia

Marriage records of six raions (districts) of Udmurtia and the city of Glazov (a total of 10,518 records) have been used to calculate marriage-migration parameters. The endogamy indices of the rural and urban Udmurt populations are 0.59 (from 0.48 to 0.76 in individual districts) and 0.29, respectively, and those of the rural and urban Russian populations are 0.33 and 0.47, respectively. The mean ethnic assortativeness values are 1.05 and 0.89 for the rural and urban Udmurt populations, respectively, and 2.13 and 1.44 for the rural and urban Russian populations, respectively. The parameters of isolation by distance for the rural Udmurt population are the following: sigma = 52.4, a = 0.00035, and b = 0.012; those for the urban Udmurt population are 54.1, 0.00020, and 0.010, respectively.     

Analysis of polymorphic loci of Huntington genes in peoples from the Volga-Ural region

Eleven populations of the Volga-Ural region were analyzed with respect to three intragenic polymorphisms of the Huntington disease gene (IT15), including highly polymorphic (CAG)n and moderately polymorphic (CCG)n of exon 1 and neutral del2642 of exon 58. In the case of (CAG)n, 101 genotypes were observed, with genotype number varying from 15 in Southeastern Bashkirs to 34 in Mari. Allele diversity RS ranged from 9.70 in Southeastern Bashkirs to 18.00 in Chuvash, averaging 13.79 +/- 2.12. The (CAG)n allele frequency distribution was unimodal and had a maximum at (CAG)17. In the case of (CCG)n, six alleles with 6-10 or 12 repeats were observed. RS was 4.13 +/- 0.44, ranging from 3.73 in Udmurts to 4.99 in Tatars. In the case of del2642, allele del- was detected at a frequency 0.830 in Mari to 0.932 in Udmurts. Of all Volga-Ural ethnic populations, Finno-Ugric ones proved to be most heterogeneous with respect to the three polymorphisms, whereas Turkic populations and, in particular, Bashkirs were homogeneous. Micro-differentiation of the Volga-Ural populations corresponded to the European type.     

Marriage-migration characteristics of the urban and rural populations of Udmurtia

Marriage records of six raions (districts) of Udmurtia and the city of Glazov (a total of 10518 records) have been used to calculate marriage-migration parameters. The endogamy indices of the rural and urban Udmurt populations are 0.59 (from 0.48 to 0.76 in individual districts) and 0.29, respectively, and those of the rural and urban Russian populations are 0.33 and 0.47, respectively. The mean ethnic assortativeness values are 1.05 and 0.89 for the rural and urban Udmurt populations, respectively, and 2.13 and 1.44 for the rural and urban Russian populations, respectively. The parameters of isolation by distance for the rural Udmurt population are the following: σ = 52.4, a = 0.00035, and b = 0.012; those for the urban Udmurt population are 54.1, 0.00020, and 0.010, respectively.     

The Marriage Migration Characteristics of the Rostov Oblast Population

Marriage records have been used to study the marriage migration structure of five raions of the Rostov oblast. The mean ethnic marriage assortativeness in the Russian and Ukrainian rural populations are 1.16 and 1.6, respectively. The endogamy index of the urban population varies from 0.19 to 0.34; and that of the rural population, from 0.21 to 0.54. Malecot’s isolation by distance parameters have been calculated. Genetic landscapes have been constructed.__________Translated from Genetika, Vol. 41, No. 7, 2005, pp. 981–985.Original Russian Text Copyright © 2005 by Kriventsova, El’chinova, Amelina, Zinchenko.