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Genetic ecological monitoring in human populations: Heterozygosity, mtDNA haplotype variation, and genetic load

Russian Journal of Genetics volume 47, pages 1353–1363 (2011)Cite this article

Abstract

Yu.P. Altukhov suggested that heterozygosity is an indicator of the state of the gene pool. The idea and a linked concept of genetic ecological monitoring were applied to a new dataset on mtDNA variation in East European ethnic groups. Haplotype diversity (an analog of the average heterozygosity) was shown to gradually decrease northwards. Since a similar trend is known for population density, interlinked changes were assumed for a set of parameters, which were ordered to form a causative chain: latitude increases, land productivity decreases, population density decreases, effective population size decreases, isolation of subpopulations increases, genetic drift increases, and mtDNA haplotype diversity decreases. An increase in genetic drift increases the random inbreeding rate and, consequently, the genetic load. This was confirmed by a significant correlation observed between the incidence of autosomal recessive hereditary diseases and mtDNA haplotype diversity. Based on the findings, mtDNA was assumed to provide an informative genetic system for genetic ecological monitoring; e.g., analyzing the ecology-driven changes in the gene pool.

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Authors and Affiliations

  1. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119901, Russia

    O. P. Balanovsky, E. E. Baranova, I. E. Teuchezh, A. A. Kuznetsova & M. V. Romashkina

  2. Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    O. P. Balanovsky, A. S. Pshenichnov, S. A. Frolova, M. A. Kuznetsova & E. V. Balanovska

  3. Moscow State University, Moscow, 119992, Russia

    S. M. Koshel

  4. Research Center of Drug Evaluation, Ministry of Health and Social Development of the Russian Federation, Moscow, 117246, Russia

    V. V. Zaporozhchenko

  5. Adygei State University, Maikop, 385000, Russia

    I. E. Teuchezh

  6. Chita State University, Chita, 672039, Russia

    A. A. Kuznetsova

  7. Ogarev Mordovian State University, Saransk, 430005, Russia

    M. V. Romashkina

  8. Kharkov State University, Kharkov, 61077, Ukraine

    O. M. Utevska

  9. Belgorod State University, Belgorod, 308015, Russia

    M. L. Churnosov

  10. Estonian Biocenter, Tartu, 51010, Estonia

    R. Villems

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  1. O. P. Balanovsky
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  2. S. M. Koshel
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  3. V. V. Zaporozhchenko
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  4. A. S. Pshenichnov
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  8. I. E. Teuchezh
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  9. A. A. Kuznetsova
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  11. O. M. Utevska
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  12. M. L. Churnosov
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  14. E. V. Balanovska
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Correspondence to O. P. Balanovsky.

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Original Russian Text © O.P. Balanovsky, S.M. Koshel, V.V. Zaporozhchenko, et al., 2011, published in Genetika, 2011, Vol. 47, No.11, pp. 1523–1535.

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Balanovsky, O.P., Koshel, S.M., Zaporozhchenko, V.V. et al. Genetic ecological monitoring in human populations: Heterozygosity, mtDNA haplotype variation, and genetic load. Russ J Genet 47, 1353–1363 (2011). https://doi.org/10.1134/S1022795411110056

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