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The T4336C Variant Is a Marker of Mitochondrial Subhaplogroup H1, a Common Component of the Russian and German Gene Pools

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Abstract

Analysis of mitochondrial DNA (mtDNA) restriction polymorphism carried out in a sample of Russians from Magadan (n= 150) showed that the frequency of the +4332AvaII variant (a T–C transition at nucleotide position 4336) in this population was 4.7%. All +4332AvaII types of mtDNA belonged to the mitochondrial group H. They were characterized by a back of the AluI restriction endonuclease site at position 7025. According to hypervariable segment 1 sequencing data, they contained the 16304C variant, and thus belong to the subgroup H1. Thus, the +4332AvaII (T4336C) variant is a marker of the mitochondrial subgroup H1, chiefly occurring in German-speaking populations. Utilization of the H1-mtDNA markers for the investigation of the genetic history and the origin of Slavs is discussed.

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REFERENCES

  1. Torroni, A., Huoponen, K., Francalacci, P., et al., Classification of European mtDNAs from an Analysis of Three European Populations, Genetics, 1996, vol. 144, pp. 1835-1850.

    Google Scholar 

  2. Torroni, A., Bandelt, H.-J., D'Urbano, L., et al., mtDNA Analysis Reveals a Major Late Paleolithic Population Expansion from Southwestern to Northeastern Europe, Am. J. Hum. Genet., 1998, vol. 62, pp. 1137-1152.

    Google Scholar 

  3. Torroni, A., Lott, M.T., Cabell, M.F., et al., mtDNA and the Origin of Caucasians: Identification of Ancient Caucasian-Specific Haplogroups, One of Which Is Prone to a Recurrent Somatic Duplication in the D-Loop Region, Am. J. Hum. Genet., 1994, vol. 55, pp. 760-776.

    Google Scholar 

  4. Richards, M.B., Macaulay, V.A., Bandelt, H.-J., and Sykes, B.C., Phylogeography of Mitochondrial DNA in Western Europe, Ann. Hum. Genet., 1998, vol. 62, pp. 241-260.

    Google Scholar 

  5. Helgason, A., Sigurdardottir, S., Gulcher, J.R., et al., mtDNA and the Origin of the Icelanders: Deciphering Signals of Recent Population History, Am. J. Hum. Genet., 2000, vol. 66, pp. 999-1016.

    Google Scholar 

  6. Finnilä, S., Hassinen, I.E., Ala-Kokko, L., and Majamaa, K., Phylogenetic Network of the mtDNA Haplogroup U in Northern Finland Based on Sequence Analysis of the Complete Coding Region by Conformation-Sensitive Gel Electrophoresis, Am. J. Hum. Genet., 2000, vol. 66, pp. 1017-1026.

    Google Scholar 

  7. Malyarchuk, B.A., Derenko, M.V., and Solovenchuk, L.L., Types of the Mitochondrial DNA Control Region in Eastern Slavs, Genetika (Moscow), 1995, vol. 31, no. 6, pp. 846-851.

    Google Scholar 

  8. Anderson, S., Bankier, A.T., Barrel, B.G., et al., Sequence and Organization of the Human Mitochondrial Genome, Nature, 1981, vol. 290, pp. 457-465.

    Google Scholar 

  9. Lutz, S., Weisser, H.-J., Heizmann, J., and Pollak, S., Location and Frequency of Polymorphic Positions in the mtDNA Control Region of Individuals from Germany, Int. J. Legal Med., 1998, vol. 111, pp. 67-77.

    Google Scholar 

  10. Richards, M., Cô rte-Real, H., Forster, P., et al., Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool, Am. J. Hum. Genet., 1996, vol. 59, pp. 185-203.

    Google Scholar 

  11. Baasner, A., Schäfer, C., Junge, A., and Burkhard, M., Polymorphic Sites in Human Mitochondrial DNA Control Region Sequences: Population Data and Maternal Inheritance, Forensic Sci. Int., 1998, vol. 98, pp. 169-178.

    Google Scholar 

  12. Sajantila, A., Lahermo, P., Anttinen, T., et al., Genes and Languages in Europe: An Analysis of Mitochondrial Lineages, Genome Res., 1995, vol. 5, pp. 42-52.

    Google Scholar 

  13. Orekhov, V., Poltoraus, A., Zhivotovsky, L.A., et al., Mitochondrial DNA Sequence Diversity in Russians, FEBS Lett., 1999, vol. 445, pp. 197-201.

    Google Scholar 

  14. Parson, W., Parsons, T.J., Scheithauer, R., and Holland, M.M., Population Data for 101 Austrian Caucasian Mitochondrial DNA D-Loop Sequences: Application of mtDNA Sequence Analysis to a Forensic Case, Int. J. Legal Med., 1998, vol. 111, pp. 124-132.

    Google Scholar 

  15. Baranov, P.O., Babenko, V.N., Ivanova, A.V., et al., Specific Features of the Mitochondrial Gene Pool in Ethnic Germans from Russia, Genetika (Moscow), 1999, vol. 35, no. 2, pp. 249-254.

    Google Scholar 

  16. Piercy, R., Sullivan, K.M., Benson, N., and Gill, P., The Application of Mitochondrial DNA Typing to the Study of White Caucasian Genetic Identification, Int. J. Legal Med., 1993, vol. 106, pp. 85-90.

    Google Scholar 

  17. Malyarchuk, B.A. and Derenko, M.V., Diversity of Mitochondrial DNA 16126C Types in Eastern Slavs from Magadan, Genetika (Moscow), 2000, vol. 36, no. 1, pp. 105-108.

    Google Scholar 

  18. Malyarchuk, B.A. and Derenko, M.V., Mitochondrial DNA Variability in Russians and Ukrainians: Implication to the Origin of the Eastern Slavs, Ann. Hum. Genet., 2001, vol. 65, pp. 63-78.

    Google Scholar 

  19. Shoffner, J.M., Brown, M.D., Torroni, A., et al., Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients, Genomics, 1993, vol. 17, pp. 171-184.

    Google Scholar 

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  1. Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, 685000, Russia

    B. A. Malyarchuk & M. V. Derenko

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  1. B. A. Malyarchuk
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  2. M. V. Derenko
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Malyarchuk, B.A., Derenko, M.V. The T4336C Variant Is a Marker of Mitochondrial Subhaplogroup H1, a Common Component of the Russian and German Gene Pools. Russian Journal of Genetics 37, 1329–1331 (2001). https://doi.org/10.1023/A:1012573512606

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