Russian Journal of Genetics

, Volume 49, Issue 3, pp 329–343

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

  • M. A. Gubina
  • L. D. Damba
  • V. N. Babenko
  • A. G. Romaschenko
  • M. I. Voevoda
Human Genetics


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.


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Copyright information

© Pleiades Publishing, Ltd. 2013

Authors and Affiliations

  • M. A. Gubina
    • 1
  • L. D. Damba
    • 3
  • V. N. Babenko
    • 1
  • A. G. Romaschenko
    • 1
  • M. I. Voevoda
    • 1
    • 2
  1. 1.Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of SciencesNovosibirskRussia
  2. 2.Scientific Research Institute of TherapySiberian Branch of the Russian Academy of Medical SciencesNovosibirskRussia
  3. 3.Republican Hospital No 3KyzylTyva Republic, Russia

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