Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volga–Ural Region

The mtDNA polymorphism was analyzed in eight ethnic groups (N = 979) of the Volga–Ural region. Most mtDNA variants belonged to haplogroups H, U, T, J, W, I, R, and N1 characteristic of West Eurasian populations. The most frequent were haplogroups H (12–42%) and U (18–44%). East Eurasian mtDNA types (A, B, Y, F, M, N9) were also observed. Genetic diversity was higher in Turkic than in Finno-Ugric populations. The frequency of mtDNA types characteristic of Siberian and Central Asian populations substantially increased in the ethnic groups living closer to the Urals, a boundary between Europe and Asia. Geographic distances, rather than linguistic barriers, were assumed to play the major role in distribution of mtDNA types in the Volga–Ural region. Thus, as concerns the maternal lineage, the Finno-Ugric populations of the region proved to be more similar to their Turkic neighbors rather than to linguistically related Balto-Finnish ethnic groups.     

Genetic diversity of Besermyans inferred from mitochondrial DNA polymorphism

The first data are presented on mtDNA diversity in Besermyans, the Finno-Ugric ethnic group related to Udmurts. An analysis of mtDNA polymorphism showed that Besermyans stood out from the other populations of Volga-Ural region due to the presence of a large proportion of the Mongoloid component. The sample of Besermyans contained East Eurasian haplotypes not detected in ethnic populations of the Volga region and Cisurals, while they were detected in South Siberia, mostly among Turkic-speaking populations. An analysis of the genetic distances between Besermyans and the neighboring ethnic groups showed that Besermyans were distant from other populations of Volga-Ural region and close to Turkic-speaking populations of South Siberia. Thus, the data obtained favor the suggestion on the mixed Udmurto-Turkic origin of Besermyans.     

A study of polymorphism of the D2 dopamine receptor gene in the population of the Volga-Ural Region

Using polymerase chain reaction (PCR), TaqI polymorphism for the D2 dopamine receptor gene (DRD2) was studied in eight populations of the Volga-Ural region that belong to the Turkic (Bashkirs, Tatars, and Chuvashes), Finno-Ugric (Maris, Komis, Mordvinians, and Udmurts), and Eastern-Slavonic (Russians) ethnic groups. Significant differences in the distribution of genotype frequencies were found between the Tatar population belonging to the Turkic branch of the Altaic linguistic family and the Mari and Mordvinian populations belonging to the Finno-Ugric branch of the Ural family and between the Tatar and Bashkir populations belonging to the Turkic ethnic group.     

Haplotype diversity in mtDNA and Y-chromosome in populations of Altai-Sayan region

Polymorphism of mtDNA was examined in five ethnic populations that belong to the Turkic language group and inhabit the territory of the Altai-Sayan upland (N = 1007). Most of the haplogroups identified in the examined populations belonged to East Eurasian lineages. In all five populations, only three haplogroups, C, D, and F, were prevailing. The frequencies of the other six haplogroups (A, B, G, M, Y, and Z) varied in the range from 1.1 to 6.5%. Among West Eurasian haplogrous, the most common were haplogroups H, J, T, and U. An analysis of Y-chromosome haplogroups in 407 individuals showed that only two haplogroups, N* and R1a1, were present in all five populations examined. Moreover, in different ethnic groups, the highest frequencies were observed for C-M130, N-P43, and N-Tat haplogroups. The differences in the distribution patterns of ancient West Eurasian and East Eurasian haplotypes from Gorny Altai in the present-day populations from the northern part of Eurasia revealed can be explained in terms of the multistage expansion of humans across these territories. The ubiquity of haplotypes from haplogroup H and cluster U across the wide territory from the Yenisei River basin to the Atlantic Ocean can indicate directional human expansion, which most likely occurred out of Central Asia as early as in the Paleolithic era, and took place in several waves with the glacier retreat.     

Analysis of mitochondrial DNA haplotypes in yakut population

To study the mitochondrial gene pool structure in Yakuts, polymorphism of mtDNA hypervariable segment I (16,024-16,390) was analyzed in 191 people sampled from the indigenous population of the Sakha Republic. In total, 67 haplotypes of 14 haplogroups were detected. Most (91.6%) haplotypes belonged to haplogroups A, B, C, D, F, G, M*, and Y, which are specific for East Eurasian ethnic groups; 8.4% haplotypes represented Caucasian haplogroups H, HV1, J, T, U, and W. A high frequency of mtDNA types belonging to Asian supercluster M was peculiar for Yakuts: mtDNA types belonging to haplogroup C, D, or G and undifferentiated mtDNA types of haplogroup M (M*) accounted for 81% of all haplotypes. The highest diversity was observed for haplogroups C and D, which comprised respectively 22 (44%) and 18 (30%) haplotypes. Yakuts showed the lowest genetic diversity (H = 0.964) among all Turkic ethnic groups. Phylogenetic analysis testified to a common genetic substrate of Yakuts, Mongols, and Central Asian (Kazakh, Kyrgyz, Uigur) populations. Yakuts proved to share 21 (55.5%) mtDNA haplogroups with the Central Asian ethnic groups and Mongols. Comparisons with modern paleo-Asian populations (Chukcha, Itelmen, Koryaks) revealed three (8.9%) haplotypes common for Yakuts and Koryaks. The results of mtDNA analysis disagree with the hypothesis of an appreciable paleo-Asian contribution to the modern Yakut gene pool.     

Analysis of Mitochondrial DNA Lineages in Yakuts

To study the mitochondrial gene pool structure in Yakuts, polymorphism of mtDNA hypervariable segment I (16,024–16,390) was analyzed in 191 people sampled from the indigenous population of the Sakha Republic. In total, 67 haplotypes of 14 haplogroups were detected. Most (91.6%) haplotypes belonged to haplogroups A, B, C, D, F, G, M*, and Y, which are specific for East Eurasian ethnic groups; 8.4% haplotypes represented Caucasian haplogroups H, HV1, J, T, U, and W. A high frequency of mtDNA types belonging to Asian supercluster M was peculiar for Yakuts: mtDNA types belonging to haplogroup C, D, or G and undifferentiated mtDNA types of haplogroup M (M*) accounted for 81% of all haplotypes. The highest diversity was observed for haplogroups C and D, which comprised respectively 22 (44%) and 18 (30%) haplotypes. Yakuts showed the lowest genetic diversity (H = 0.964) among all Turkic ethnic groups. Phylogenetic analysis testified to common genetic substrate of Yakuts, Mongols, and Central Asian (Kazakh, Kyrgyz, Uighur) populations. Yakuts proved to share 21 (55.5%) mtDNA haplotypes with the Central Asian ethnic groups and Mongols. Comparisons with modern Paleoasian populations (Chukcha, Itelmen, Koryaks) revealed three (8.9%) haplotypes common for Yakuts and Koryaks. The results of mtDNA analysis disagree with the hypothesis of an appreciable Paleoasian contribution to the modern Yakut gene pool.     

Phylogeographic Analysis of Mitochondrial DNA in the Nogays: A Strong Mixture of Maternal Lineages from Eastern and Western Eurasia

Analysis of mtDNA markers in a population of the Nogays (n = 206), the people inhabiting the North Caucasus and speaking a Turkic language of the Altaic linguistic family, has revealed a high level of genetic diversity (H = 0.99). The identified haplotypes include all major West Eurasian haplogroups, with the prevalence of H and U clusters (22 and 21%, respectively), but the percentage of lineages specific for East Eurasian populations is the highest (40%). Some other mtDNA variants in the Nogay population belong to the M1 haplogroups typical of northeastern Africa and U2 characteristic of Indian populations. Thus, components of different origin have contributed to the gene pool of Nogays. An erratum to this article is available at .     

Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history

The Altaian Kazakhs, a Turkic speaking group, now reside in the southern part of the Altai Republic in south-central Russia. According to historical accounts, they are one of several ethnic and geographical subdivisions of the Kazakh nomadic group that migrated from China and Western Mongolia into the Altai region during the 19th Century. However, their population history of the Altaian Kazakhs and the genetic relationships with other Kazakh groups and neighboring Turkic-speaking populations is not well understood. To begin elucidating their genetic history, we analyzed the mtDNAs from 237 Altaian Kazakhs through a combination of SNP analysis and HVS1 sequencing. This analysis revealed that their mtDNA gene pool was comprised of roughly equal proportions of East (A-G, M7, M13, Y and Z) and West (H, HV, pre-HV, R, IK, JT, X, U) Eurasian haplogroups, with the haplotypic diversity within haplogroups C, D, H, and U being particularly high. This pattern of diversity likely reflects the complex interactions of the Kazakhs with other Turkic groups, Mongolians, and indigenous Altaians. Overall, these data have important implications for Kazakh population history, the genetic prehistory of the Altai-Sayan region, and the phylogeography of major mitochondrial lineages in Eurasia.     

Polymorphism of the serotonin transporter gene in populations of the Volga-Ural region

Polymorphism of the serotonin transporter gene (hSERT) was studied in eight human populations of the Volga-Ural region by means of polymerase chain reaction (PCR). The populations studied belonged to Turkic (Bashkirs, Tatars, and Chuvashes), Finno-Ugric (Maris, Komis, Mordovians, and Udmurts), and Eastern Slavic (Russians) ethnic groups. Comparison of the hSERT polymorphisms in these populations established the population-specific distribution patterns of the main component of this polymorphic system in the region studied and revealed the interethnic differences in hSERT allelic and genotypic frequencies.     

Analysis of polymorphism of the glutathione S-transferase gene in populations of the Volga-Ural region

The frequency of the GSTM1 gene deletion homozygotes in eight populations of the Volga-Ural region belonging according to linguistic classification to Turkic (Bashkirs, Tatars, and Chuvashs), Finno-Ugric (Maris, Komis, Mordovians, and Udmurts), and Eastern-Slavic (Russians) ethnic groups, was examined by means of PCR technique. The frequency of the deletion homozygotes varied from 41.4% in Bashkirs to 61.3% in Mordovians. The mean deletion frequency comprised 50.1%, which was consistent with the data for European populations (chi 2 = 0.009).     

Insertion-deletion polymorphism of the angiotensin-converting enzyme gene in populations of the Volga-Ural region

Insertion-deletion polymorphism at the angiotensin I-converting enzyme (ACE) gene in populations of the Volga-Ural region was examined by means of polymerase chain reaction. The populations studied belong to the Finno-Ugric (Komis, Maris, Mordovians, and Udmurts), Turkic (Chuvashes, Tatars, and Bashkirs), and Eastern-Slavic (Russians) ethnic groups. Distribution patterns of allele and genotype frequencies of this polymorphic system in the examined region were characterized. Comparison of the obtained results with the literature data on the ACE gene polymorphism in other Caucasoid and Mongoloid populations revealed some trends in the ACE genotype frequency dynamics depending on the ethnicity of the populations.     

Polymorphism of the dopamine D2 receptor gene in populations from the Volga-Ural region

The PCR technique was used to analyze the TaqIA- and NcoI-polymorphisms at the dopamine D2 receptor gene (DRD2) in eight populations of the Volga-Ural region belonging to Turkic (Bashkirs, Tatars, and Chuvashes), Finno-Ugric (Maris, Komis, Mordovians, and Udmurts), and Eastern-Slavic (Russians) ethnic groups. Population-specific patterns of the main TaqIA- and NcoI-polymorphisms distribution were established. Specific trends in changes of genotype and allele frequency of the dopamine D2 receptor gene depending on the ethnicity of the population were revealed.     

Analysis of the angiotensinogen gene T174M polymorphism in populations of the Volga-Ural region

The method of polymerase chain reaction was used to analyze T174M polymorphism at the angiotensinogen (AGT) gene in a number of populations of the Volga-Ural region, belonging to Finno-Ugric (Komi-Permyaks, Maris, Mordovians, and Udmurts), Turkic (Chuvashes, Tatars, and Bashkirs), and Eastern-Slavic (Russians) ethnic groups. Population-specific patterns of the polymorphic alleles and genotypes frequency distribution were established. Comparison of the results with the literature data on the AGT gene polymorphism in different world populations provided identification of specific trends in the changes of genotype frequency of the AGT gene depending on the ethnicity of the populations.     

Genetic distances and taxonomic analysis of human populations of the Volga-Ural region based on data on DNA polymorphism]

DNA polymorphism was studied in the human diallelic loci MET and D7S23 linked to the cystic fibrosis gene, diallelic locus PAH (the phenylketonuria gene), polyallelic locus ApoB, and hypervariable DNA sequences identified by means of DNA fingerprinting with phage M13 DNA as a probe. The obtained data were used to calculate genetic distances and perform taxonomic analysis of populations of the Volga-Ural region (Turkic and Finno-Ugric ethnic groups). The DNA polymorphic systems studied were demonstrated to be highly informative; their advantages and disadvantages were revealed. According to the data obtained, the genetic distances that were calculated from DNA fingerprints more adequately reflected the genetic relationships between the populations studied than the distances calculated from the allelic frequencies of four DNA loci. It was also found that, in population studies, it would suffice to analyze only the 3.5-6 kb fingerprint fragment that is most suitable for reading, rather than the entire fingerprint obtained.     

Analysis of Y-chromosomal diallelic loci polymorphism in populations of the Volga-Ural region

Three diallelic polymorphisms of human Y chromosome, DYS287 (Y Alu polymorphism, YAP), T/C transition at the RBF5 locus (Tat), and G/A transition at the LLY22 locus, were studied in eight ethnic populations of the Volga-Ural region, representing Turkic (Bashkirs, Tatars, and Chuvashes) and Finno-Ugric (Maris, Mordovians, Udmurts, Komi-Zyryans, and Komi-Permyaks) branches of the Uralic linguistic family, and in the group of Slavic migrants, belonging to the Indo-European linguistic family (Russians). Ethnic populations of the Volga-Ural region were characterized by a low frequency of the Y chromosome Alu insertion. Examination of an association between the Alu polymorphism and Tat mutation revealed absolute C/YAP linkage. Analysis of the haplotype frequency distribution patterns constructed from the data on the DYS287 and RBF5 polymorphisms revealed substantial differences between Udmurts and the other ethnic populations. The differences were also observed between Komi-Zyryans and the populations of Bashkirs, Mordovians, Komi-Permyaks, and Russians. Analysis of the degree of genetic differentiation pointed to high level of genetic differentiation of the male lineages of the Finno-Ugric ethnic groups. The data on the linkage between mutations of the RBF5 and the LLY22 loci indicated the common origin of the Tat mutation in Bashkirs, Mordovians, Udmurts, and Komi-Zyryans, and of a number of ancestral C allele-bearing chromosomes in Tatars, Maris, and Chuvashes.     

Phylogeografic analysis of mitochondrial DNA Nogays: the high level of mixture of maternal lineages from Eastern and Western Eurasia

Analysis of markers mtDNA in a population of Nogays (n = 206), living on Nothern Caucasus and speaking on language of Turkic branch of the Altaic linguistic family, has shown, that the level of their genetic differentiation is high (H = 0.99). Among the found haplotypes there is all the basic Western Eurasian haplogroups, most often of which are clusters H (22%) and U (21%), however, the percentage of the lineages specific only for populations of East Eurasia (40%) is highest. In a population of Nogays there are also variants mtDNA, belonging to haplogroup M1, characteristic for North East Africa, and gaplogroup U2, typical for populations of India. This testifies about presence in a gene pool of Nogays people of components of a various parentage.     

Polymorphism of mitochondrial DNA in old believers from Siberia

The polymorphism of mtDNA was examined in populations of Old Believers (n = 104) and Russians from Novosibirsk oblast (n = 270). Most of the haplogroups identified belonged to West Eurasian lineages. The frequencies of these haplogroups constituted 96.6% in Russians from Novosibirsk and 93.2% in Old Believers from Tyumen oblast. The populations examined were characterized by a high mtDNA diversity level (h = 0.98) compared to other population samples of Russians from Russia. Among the West Eurasian haplogroups, the most common (a frequency of more than 10%) were haplogroups H, U, J, and T, the proportion of which constituted 77.9% in Old Believers and 83.1% in Russians from Novosibirsk. The Mongoloid admixture in Russians (3.3%) and Old Believers (6.7%) was represented by haplogroups A, D, Z, and C, D, M*, respectively. Statistically significant differences (P < 0.05) were revealed between the Old Believers examined and Bosnians, Czechs, Slovenes, and Russians from the cities of Nizhny Novgorod and Tula. The data obtained confirm the earlier hypothesized influence of the Finno-Ugric component on the East Slavic populations.     

Differentiation of mitochondrial DNA and Y chromosomes in Russian populations

The genetic composition of the Russian population was investigated by analyzing both mitochondrial DNA (mtDNA) and Y-chromosome loci polymorphisms that allow for the different components of a population gene pool to be studied, depending on the mode of DNA marker inheritance. mtDNA sequence variation was examined by using hypervariable segment I (HVSI) sequencing and restriction analysis of the haplogroup-specific sites in 325 individuals representing 5 Russian populations from the European part of Russia. The Y-chromosome variation was investigated in 338 individuals from 8 Russian populations (including 5 populations analyzed for mtDNA variation) using 12 binary markers. For both uniparental systems most of the observed haplogroups fell into major West Eurasian haplogroups (97.9% and 99.7% for mtDNA and Y-chromosome haplogroups, respectively). Multidimensional scaling analysis based on pairwise F(ST) values between mtDNA HVSI sequences in Russians compared to other European populations revealed a considerable heterogeneity of Russian populations; populations from the southern and western parts of Russia are separated from eastern and northern populations. Meanwhile, the multidimensional scaling analysis based on Y-chromosome haplogroup F(ST) values demonstrates that the Russian gene pool is close to central-eastern European populations, with a much higher similarity to the Baltic and Finno-Ugric male pools from northern European Russia. This discrepancy in the depth of penetration of mtDNA and Y-chromosome lineages characteristic for the most southwestern Russian populations into the east and north of eastern Europe appears to indicate that Russian colonization of the northeastern territories might have been accomplished mainly by males rather than by females.     

Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china

Previous studies have shown that there were extensive genetic admixtures in the Silk Road region. In the present study, we analyzed 252 mtDNAs of five ethnic groups (Uygur, Uzbek, Kazak, Mongolian, and Hui) from Xinjiang Province, China (through which the Silk Road once ran) together with some reported data from the adjacent regions in Central Asia. In a simple way, we classified the mtDNAs into different haplogroups (monophyletic clades in the rooted mtDNA tree) according to the available phylogenetic information and compared their frequencies to show the differences among the matrilineal genetic structures of these populations with different demographic histories. With the exception of eight unassigned M*, N*, and R* mtDNAs, all the mtDNA types identified here belonged to defined subhaplogroups of haplogroups M and N (including R) and consisted of subsets of both the eastern and western Eurasian pools, thus providing direct evidence supporting the suggestion that Central Asia is the location of genetic admixture of the East and the West. Although our samples were from the same geographic location, a decreasing tendency of the western Eurasian-specific haplogroup frequency was observed, with the highest frequency present in Uygur (42.6%) and Uzbek (41.4%) samples, followed by Kazak (30.2%), Mongolian (14.3%), and Hui (6.7%). No western Eurasian type was found in Han Chinese samples from the same place. The frequencies of the eastern Eurasian-specific haplogroups also varied in these samples. Combined with the historical records, ethno-origin, migratory history, and marriage customs might play different roles in shaping the matrilineal genetic structure of different ethnic populations residing in this region.     

Polymorphism of hypervariable segment I of mitochondrial DNA in three ethnic groups of the Volga-Ural region

A population genetic study of the polymorphism in the first hypervariable segment (HVSI) of mitochondrial DNA control region was carried out for three ethnic populations of the Volga-Ural region, Bashkirs, Russians, and Komi-Permyaks. This analysis showed that most of the mtDNA HVSI haplotypes detected in the populations of Bashkirs, Russians and Komi-Permyaks contained the combinations of nucleotide substitutions detected earlier in Asian, European, and Finno-Ugric populations. These findings are consistent with historical, anthropological, and ethnographical data suggesting the presence of European and Mongoloid components of different geographical descent in the gene pool of the contemporary population of the Volga-Ural region. The data on the genetic structure and the phylogenetic relationships between populations of the Volga-Ural region based on modern molecular genetic methods of mitochondrial genome investigation would be a substantial addition to the already existing information for some other regions of Europe and Asia. These data would provide more complete examination of the development of interethnic diversity of mitochondrial gene pools of contemporary ethnic populations with the purpose of reconstructing the genetic demographic processes that accompanied peopling of the Middle Ural and Volga region.