Abstract
Using the data on mitochondrial DNA (mtDNA) restriction polymorphism, the gene pools of Koreans (N = 164) and Mongolians (N = 48) were characterized. It was demonstrated that the gene pools were represented by the common set of mtDNA haplogroups of East Asian origin (M*, M7, M8a, M10, C, D4, G*, G2, A, B*, B5, F1, and N*). In addition to this set, mtDNA haplogroups D5 and Y were identified in Koreans while Mongolians possessed haplogroup Z. Only in Mongolians, a European component with the frequency of 10.4% and represented by the mtDNA types belonging to haplogroups K, U4, and N1, was identified. Phylogenetic and statistical analyses of the data on mtDNA variation in the populations of South Siberia, Central, and East Asia suggested the existence of interpopulation differentiation within these regions, the main role in which was played by the geographical and linguistic factors. Analysis of the pairwise F ST distances demonstrated close genetic similarity of Koreans to Northern Chinese, which in turn, were clearly different from Southern Chinese populations. Mongolians occupied an intermediate position between the ethnic groups of South Siberia and Central/East Asia.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
REFERENCES
Alekseev, V.P., Geograficheskie ochagi formirovaniya chelovecheskikh ras (Geographical Foci of the Formation of Human Races), Moscow: Mysl', 1985.
Alekseev, V.P., Istoricheskaya antropologiya i antropogenez (Historical Anthropology and Anthropogenesis), Moscow: Nauka, 1989.
Alekseev, V.M. and Gokhman, I.I., Antropologiya aziatskoi chasti SSSR (Anthropology of the Asian Part of the Soviet Union), Moscow: Nauka, 1984.
Jin, L. and Su, B., Natives or Immigrants: Modern Human Origin in East Asia, Nat. Rev. Genet., 2000, vol. 1, pp. 126–133.
Cavalli-Sforza, L.L., Menozzi, P., and Piazza, A., The History and Geography of Human Genes, Princeton, New York: Princeton Univ. Press, 1994, pp. 195–252.
Yao, Y.-G., Kong, Q.-P., Bandelt, H.-J., et al., Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese, Am. J. Hum. Genet., 2002, vol. 70, pp. 635–651.
Saha, N. and Tay, J.S.H., Origin of Koreans: A Population Genetic Study, Am. J. Phys. Anthropol., 1992, vol. 88, pp. 27–36.
Hong, S.S., Suh, J.A., Chae, J.J., et al., Frequency Distribution of Alleles at D1S80 and Apo-B 3'-VNTR Loci in Korean Population, Mol. Cell, 1993, vol. 3, pp. 457–463.
Horai, S., Murayama, K., Hayasaka, K., et al., mtDNA Polymorphism in East Asian Populations, with Special Reference to the Peopling of Japan, Am. J. Hum. Genet., 1996, vol. 59, pp. 579–590.
Kivisild, T., Tolk, H.-V., Parik, J., et al., The Emerging Limbs and Twigs of the East Asian mtDNA Tree, Mol. Biol. Evol., 2002, vol. 19, pp. 1737–1751.
Jin, H.-J., Kwak, K.-D., Hammer, M., et al., Y-Chromo-somal DNA Haplogroups and Their Implications for the Dual Origin of the Koreans, Hum. Genet., 2003, vol. 114, pp. 27–35.
Karafet, T.M., Xu, R., Du, R., et al., Paternal Population History of East Asia: Sources, Patterns and Microevolu-tionary Processes, Am. J. Hum. Genet., 2001, vol. 69, pp. 615–628.
Kim, K., People and Language, in Korea—Its People and Cultures, Kim, K., Ed., Seoul: Hakwonsa, 1970, pp. 10–20.
Kolman, C.J., Sambuughin, N., and Bermingham, E., Mitochondrial DNA Analysis of Mongolian Populations and Implications for the Origin of New World Founders, Genetics, 1996, vol. 142, pp. 1321–1334.
Sambuughin, N., Petrishchev, V.N., and Rychkov, Yu.G., DNA Polymorphism in the Mongolian Population: RFLP Analysis of Mitochondrial DNA, Genetika (Mos-cow), 1991, vol. 27, no. 11, pp. 2143–2151.
Sambuughin, N., Petrishchev, V.N., and Rychkov, Yu.G., DNA Polymorphism in the Mongolian Population: RFLP Analysis of Seven Loci of the Nuclear Genome, Genetika (Moscow), 1991, vol. 27, no. 11, pp. 2137–2142.
Keyser-Tracqui, C., Crubezy, E., and Ludes, B., Nuclear and Mitochondrial DNA Analysis of a 2000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia, Am. J. Hum. Genet., 2003, vol. 73, pp. 247–260.
Walsh, P.S., Metzger, D.A., and Higuchi, R., Research Report: Chelex 100 as a Medium for Simple Extraction of DNA for PCR-Based Typing from Forensic Material, BioTechniques, 1991, vol. 10, pp. 506–513.
Finnila, S., Hassinen, I., 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.
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.
Macaulay, V., Richards, M., Hickey, E., et al., The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs, Am. J. Hum. Genet., 1999, vol. 64, pp. 232–249.
Kong, Q.-P., Yao, Y.-G., Sun, C., et al., Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences, Am. J. Hum. Genet., 2003, vol. 73, pp. 671–676.
Raymond, M. and Rousset, F., An Exact Test of Popula-tion Differentiation, Evolution, 1995, vol. 49, pp. 1280–1283.
Schneider, S., Roessl, D., and Excoffier, L., Arlequin V. 2.000: A Software for Population Genetics Data Analysis, Geneva: Univ. of Geneva, 2000.
Poloni, E.S., Semino, O., Passarino, G., et al., Human Genetic Affinities for Y-Chromosome P49a,f/TaqI Hap-lotypes Show Strong Correspondence with Linguistics, Am. J. Hum. Genet., 1997, vol. 61, pp. 1015–1035.
Derenko, M.V., Malyarchuk, B.A., Denisova, G.A., et al., Molecular Genetic Differentiation of the Ethnic Populations of South and East Siberia Based on Mito-chondrial DNA Polymorphism, Russ. J. Genet., 2002, vol. 38, no. 10, pp. 1196–1202.
Derenko, M.V., Grzybowski, T., Malyarchuk, B.A., et al., Diversity of Mitochondrial DNA Lineages in South Siberia, Ann. Hum. Genet., 2003, vol. 67, pp. 391–411.
Derenko, M.V. and Malyarchuk, B.A., Gradient of Mito-chondrial Genome Diversity among Mongoloid Populations of Asia Inferred from mtDNA Hypervariable Region I Variability, Mol. Biol. (Moscow), 1998, vol. 32, no. 5, pp. 651–657.
Derenko, M.V., Denisova, G.A., Malyarchuk, B.A., et al., The Structure of the Gene Pools of the Ethnic Populations of Altai–Sayan Region Based on Mitochondrial DNA Polymorphism Data, Russ. J. Genet., 2001, vol. 37, no. 10, pp. 1177–1185.
Derbeneva, O.A., Starikovskaya, E.B., Volodko, N.V., et al., Mitochondrial DNA Variation in the Kets and Nganasans and Its Implications for the Initial Peopling of Northern Eurasia, Russ. J. Genet., 2002, vol. 38, no. 11, pp. 1316–1321.
Derbeneva, O.A., Starikovskaya, E.B., Wallace, D.C., and Sukernik, R.I., Traces of Early Eurasians in the Mansi of Northwest Siberia Revealed by Mitochondrial DNA Analysis, Am. J. Hum. Genet., 2002, vol. 70, pp. 1009–1014.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Derenko, M.V., Lunkina, A.V., Malyarchuk, B.A. et al. Restriction Polymorphism of Mitochondrial DNA in Koreans and Mongolians. Russian Journal of Genetics 40, 1292–1299 (2004). https://doi.org/10.1023/B:RUGE.0000048673.70713.a5
Issue Date:
DOI: https://doi.org/10.1023/B:RUGE.0000048673.70713.a5