HGM2002 Poster Abstracts: 4. Functional Genomics
POSTER NO: 179
Mitochondrial DNA variability in Kazakhs
1M. Bermisheva, 1E. Khusnutdinova, 1A. Salimova, 2G. Svyatova, 2G. Berezina, 3R. Villems
We sequenced the mitochondrial hypervariable region I and performed extensive RFLP analysis of 109 Kazakh mtDNA samples. We found that more than 64% of mtDNA lineages belong to Asian-specific haplogroups (M, C, Z, D, G, A, B, F, N9). Supercluster M was found with most high frequency (45%). Western-Eurasian specific haplogroups were observed in 35% (H, V, HV, J, T, U1, U2, U4, U5, U7, K, W, X). A number of features in distribution of frequencies of some lineages are revealed: 1 - the haplogroups U5 and T are more frequent in Kazakhs than in other Turkic-speaking ethnic groups of Siberia, but less frequent than in populations of the Volga-Ural region; 2 - the frequencies of the haplogroups V and W are the same in Kazakhs, Turkic-speaking populations of the Volga-Ural region (Tatars, Bashkirs, Chuvashis) and Caucasus (Nogays, Azeris); 3 - the lineage of Hg U7, typical for all Levant, including Iran, was revealed in Kazakhs. U7 presents also among Nogays, Uzbeks and Turks, but is absent in populations of Tatars, Bashkirs, Chuvashis and native Siberians; 4 - hg U4 is a rare haplogroup in Kazakhs, but this hg is the most frequent among Azeris, Bashkirs, Chuvashis, Tatars, Uzbeks, Uighurs and Altaics; 5 - the frequency of hg H is relatively low in Kazakhs (11%), but this haplogroup has high degree of variety in this population; 6 - East Asian hgs - A, B, F, N9 - make up about 18% in Kasakhs, like in all Central Asian populations, Altaics, Tuvinians and Bashkirs. The modern populations of the Central Asia are very non-uniform in their ethnic structure. The area of Kazakhstan has been a place of interaction of many ethnic layers during a historically long period. Mongolian tribes, Turkic-speaking populations from Siberia and Altai, Indo-Iranians from Near East, and Slavs from Eastern Europe took part in the formation of Kazakhs. Thus, it is possible to explain a high level of genetic variability of mtDNA by a complicated ethnic history of the given people. The obtained data allowed us to construct a phylogenetic tree for Kazakhs on female lineage and to detect position of the studied population between ethnic groups in Europe and Asia.
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