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Polymorphism of Mitochondrial DNA and Six Nuclear Genes in the Amur Evenk Population

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Abstract

The polymorphism of six nuclear genes, ACE (I/D, rs1799752), NOS3 (4b/4a, rs61722009), ADRA2B (I/D, rs28365031), MTHFR (С677Т, rs1801133), TCF7L2 (rs7903146), and CSK (rs1378942), as well as mitochondrial DNA, was examined in the population of Amur Evenks. It was demonstrated that among Evenks, Eastern Eurasian mtDNA haplogroups with the predominance of two of them, C and D (58%), were the most common. These haplogroups are most typical of the populations of North Asia and Siberia. Among West Eurasian haplogroups, the most common is haplogroup H (15%). The lowest statistically significant differences in mtDNA were found between Evenks, Turks, and Samoyeds, and the largest differences were with Finno-Ugric populations. The observed distribution of frequencies of loci for four genes in the studied population did not differ from the theoretically expected under the Hardy–Weinberg law, with the exception of TCF7L2 and CSK loci. Statistically significant association for gametic disequilibrium was observed between four pairs of genes (ACE and MTHFR, ACE and TCF7L2, NOS3 and CSK, ADRA2B and MTHFR). The distribution of allele associations at six loci was assessed using the maximum likelihood method. The number of associated alleles was calculated for each pseudohaplotype. It was demonstrated that the number of associated alleles proportionally increased with the decrease of pseudohaplotype frequency (R2 = 0.5, R = 0.7, d.f. = 16, P < 0.001). It is suggested that the data obtained are characteristic not only of the studied population and also may reflect such processes as gametic disequilibrium (meiotic drive).

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ACKNOWLEDGMENTS

We thank the Paleoethnology Research Center (Moscow) and personally D.V. Pezhemsky for participation in organizing and conducting the expedition in 2016.

Funding

This study was supported by the Budget Project no. 0259-2021-0014, by the grant from Moscow State University for support of the leading scientific schools of Moscow State University “Depositary of Living Systems of Moscow University” in the framework of the Development Program of Moscow State University, and by the Russian Foundation for Basic Research (grant no. 20-011-00408) in the framework of the research project “Evolutionary Continuum of the Genus Homo.”

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Authors and Affiliations

  1. Federal Research Center Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, 630090, Novosibirsk, Russia

    M. A. Gubina & V. N. Babenko

  2. Moscow State University, Scientific Research Institute and Museum of Anthropology, 125009, Moscow, Russia

    V. A. Batsevich

  3. Miklukho-Maclay Institute of Ethnology and Anthropology, Russian Academy of Sciences, 119334, Moscow, Russia

    N. A. Leibova

  4. Amur State University, 675000, Blagoveshchensk, Russia

    A. P. Zabiyako

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  1. M. A. Gubina
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  2. V. N. Babenko
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  3. V. A. Batsevich
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  4. N. A. Leibova
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  5. A. P. Zabiyako
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Correspondence to M. A. Gubina.

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Conflict of interest. The authors declare that they have no conflicts of interest.

Statement of compliance with standards of research involving humans as subjects. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent was obtained from all individual participants involved in the study.

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Translated by N. Maleeva

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Gubina, M.A., Babenko, V.N., Batsevich, V.A. et al. Polymorphism of Mitochondrial DNA and Six Nuclear Genes in the Amur Evenk Population. Russ J Genet 58, 42–56 (2022). https://doi.org/10.1134/S1022795422010033

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