Abstracts

Human Genome Diversity

We have analyzed in detail the gene pool structure of eight ethnical groups of North Asia - Tuvinians, Buryats, South Altaians (Altai-Kizhi), Khakassians, Shors, Sojots, Yakuts and Evenks. Based on mitochondrial DNA (mtDNA) variability data it has been shown that the gene pools of populations studied are characterized by different proportion of Mongoloid-specific (M*, C, D, E, G, A, B, F, Z) and Europeoid-specific (H, HV, I, J, K, N, T, U) mtDNA lineages. All populations studied exhibited the high frequencies of Mongoloid-specific mtDNAs with the maximum in Tuvinians (94.4%), Buryats (92.5%), Evenks (88.6%) и Sojots (88.2%). Furthermore, the significant amount of Europeoid-specific mtDNA lineages was found in Shors, Altaians, Khakassians, and Yakuts with the frequencies of 35.7%, 22.8%, 18.5% and 14.5%, respectively. The analysis of five Y-chromosome biallelic loci (DYS199, 92R7, SRY1532, RBF5, DYS287) variability has demonstrated the presence of paleo-Euroipeoid component represented by 92R7-T haplotypes in male gene pools of populations studied, with the frequencies showing the clinal pattern of variation increasing to the westward and reaching more than 70% in Shors and Altaians. Therefore, the distribution of mtDNA and Y-chromosome lineages in aboriginal North Asians has the considerable geographical pattern: the portion of Europeoid-specific lineages is increased in populations of western part of North Asia (Altai and Sayan region). The phylogenetic and statistic analyses data on mtDNA and Y-chromosome haplogroups frequencies distribution also clearly demonstrate the geographical differentiation of North Asian groups into three clusters including the populations of Central Asia, Middle Asia, and Siberia. Moreover, the data received allowed to conclude that the North Asian Turkic-speaking groups were formed on the basis of heterogenous genetic substrate.

This work was supported by the Russian Foundation for Basic Research (grant 99-06-80430), the State Program Frontiers in Genetics (grant 99-04-30).

Note. Abstracts are published in author's edition

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