Russian Journal of Genetics

, Volume 48, Issue 6, pp 640–650 | Cite as

Gene pool of ethnic groups of the Caucasus: Results of integrated study of the Y chromosome and mitochondrial DNA and genome-wide data

  • E. K. Khusnutdinova
  • S. S. Litvinov
  • I. A. Kutuev
  • B. B. Yunusbayev
  • R. I. Khusainova
  • V. L. Ahmetova
  • F. S. Ahatova
  • E. Metspalu
  • S. Rootsi
  • R. Villems
Human Genetics


Genetic diversity has been analyzed in 22 ethnic groups of the Caucasus on the basis of data on Y-chromosome and mitochondrial DNA (mtDNA) markers, as well as genome-wide data on autosomal single-nucleotide polymorphisms (SNPs). It has been found that the West Asian component is prevailing in all ethnic groups studied except for Nogays. This Near Eastern ancestral component has proved to be characteristic of Caucasian populations and almost entirely absent in their northern neighbors inhabiting the Eastern European Plain. Turkic-speaking populations, except Nogays, did not exhibit an increased proportion of Eastern Eurasian mtDNA or Y-chromosome haplogroups compared to some Abkhaz-Adyghe populations (Adygs and Kabardians). Genome-wide SNP analysis has also shown substantial differences of Nogays from all other Caucasian populations studied. However, the characteristic difference of Nogays from other populations of the Caucasus seems somewhat ambiguous in terms of the R1a1a-M17(M198) and R1b1b1-M73 haplogroups of the Y chromosome. The state of these haplogroups in Turkic-speaking populations of the Caucasus requires further study.


Median Network Genome Wide Data Autosomal SNPs Principal Compo Nent Analysis Prin Cipal Component Analysis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Pleiades Publishing, Ltd. 2012

Authors and Affiliations

  • E. K. Khusnutdinova
    • 1
    • 2
  • S. S. Litvinov
    • 1
  • I. A. Kutuev
    • 1
  • B. B. Yunusbayev
    • 1
    • 3
  • R. I. Khusainova
    • 1
    • 2
  • V. L. Ahmetova
    • 1
    • 2
  • F. S. Ahatova
    • 2
  • E. Metspalu
    • 3
  • S. Rootsi
    • 3
  • R. Villems
    • 3
    • 4
  1. 1.Institute of Biochemistry and Genetics, Ufa Scientific CenterRussian Academy of SciencesUfaRussia
  2. 2.Department of Genetics and Fundamental MedicineBashkir State UniversityUfaRussia
  3. 3.Department of Evolutionary Biology, Institute of Molecular and Cell BiologyUniversity of Tartu and Estonian BiocenterTartuEstonia
  4. 4.Estonian Academy of SciencesTallinnEstonia

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