Russian Journal of Genetics

, Volume 43, Issue 5, pp 551–562 | Cite as

Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups

  • V. N. Kharkov
  • V. A. Stepanov
  • O. F. Medvedeva
  • M. G. Spiridonova
  • M. I. Voevoda
  • V. N. Tadinova
  • V. P. Puzyrev
Human Genetics


Y-chromosomal haplogroups composition and frequencies were analyzed in Northern and Southern Altaians. In the gene pool of Altaians a total of 18 Y-chromosomal haplogroups were identified, including C3xM77, C3c, DxM15, E, F*, J2, I1a, I1b, K*, N*, N2, N3a, O3, P*, Q*, R1*, R1a1, and R1b3. The structuring nature of the Altaic gene pool is determined by the presence of the Caucasoid and Mongoloid components, along with the ancient genetic substratum, marked by the corresponding Western and Eastern Eurasian haplogroups. Haplogroup R1a1 prevailed in both ethnic groups, accounting for about 53 and 38% of paternal lineages in Southern and Northern Altaians, respectively. This haplogroup is thought to be associated with the eastward expansion of early Indo-Europeans, and marks Caucasoid element in the gene pools of South Siberian populations. Similarly to haplogroup K*, the second frequent haplogroup Q* represents paleo-Asiatic marker, probably associated with the Ket and Samoyedic contributions to the Altaic gene pool. The presence of lineages N2 and N3a can be explained as the contribution of Finno-Ugric tribes, assimilated by ancient Turks. The presence of haplogroups C3xM77, C3c, N*, and O3 reflects the contribution of Central Asian Mongoloid groups. These haplogroups, probably, mark the latest movements of Mongolian migrants from the territory of contemporary Tuva and Mongolia. The data of factor analysis, variance analysis, cluster analysis, and phylogenetic analysis point to substantial genetic differentiation of Northern and Southern Altaians. The differences between Northern and Southern Altaians in the haplogroup composition, as well as in the internal haplotype structure were demonstrated.


Gene Pool Founder Haplotype Biallelic Marker Sayan Region Altai Republic 
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Copyright information

© Pleiades Publishing, Inc. 2007

Authors and Affiliations

  • V. N. Kharkov
    • 1
  • V. A. Stepanov
    • 1
  • O. F. Medvedeva
    • 1
  • M. G. Spiridonova
    • 1
  • M. I. Voevoda
    • 2
    • 3
  • V. N. Tadinova
    • 4
  • V. P. Puzyrev
    • 1
  1. 1.Institute of Medical Genetics, Tomsk Scientific CenterRussian Academy of Medical SciencesTomskRussia
  2. 2.Institute of Internal MedicineRussian Academy of Medical SciencesNovosibirskRussia
  3. 3.Institute of Cytology and GeneticsRussian Academy of SciencesNovosibirskRussia
  4. 4.Republican Children HospitalGorno-AltaiskRussia

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