1022-7954/04/4011- © 2004 MAIK “Nauka /Interperiodica” 1292 Russian Journal of Genetics, Vol. 40, No. 11, 2004, pp. 1292–1299. Translated from Genetika, Vol. 40, No. 11, 2004, pp. 1562–1570. Original Russian Text Copyright © 2004 by Derenko, Lunkina, Malyarchuk, Zakharov, Tsedev, Park, Cho, Lee, Chu. INTRODUCTION East Asia is one of several world regions, where the first stages of the development of anatomically modern humans took place. According to paleontological data, primary eastern race-forming area was developed on the territory of the Yellow River and the Yangtze River basins as early as during Lower Paleolithic [1]. It is suggested that later (during Upper Paleolithic) the development of Mongoloid characters, differentially expressed in the present-day populations inhabiting the vast territory of Asia began on this area. Analysis of paleontological data showed that the Central Asian race-forming area was developed later (during the Neolithic) within the territory, limited by southern steppe regions of Transbaikalia, central and eastern regions of Mongolia, and, probably, by some regions of Northern China. Beginning from the Bronze Age, Cau- casoid groups started colonization of the territories of Central Asia (till Western Mongolia) and the south of Siberia. The result of this was the appearance (at the turn of the Common Era) of the South Siberian race- forming area on the territories of South Siberian steppe and the north of Central Asia. Within this area, intensive mixing between Caucasoids and Mongoloids took place. One of such local population groups has emerged in the Altai–Sayan Region [1–3]. At the same time, on the territory of China, the most important region relative to the understanding of the early stages of the Mongoloid race development, there are still no paleontological findings, covering a large time interval (from 40 to 100 thousand years ago) [4]. This is one of the reasons for such great interest to the results of molecular genetic investigations, permitting reconstruction of prehistoric (racial genetic and demo- graphic) events based on the genetic analysis of the present-day and ancient populations. The studies of mitochondrial DNA (mtDNA) and Y-chromosome vari- ability in East Asian populations showed that the pri- mary colonization of this region by modern humans happened about 60 thousand years ago, during migra- tions of ancestral populations from Africa to the south of East Asia (in accordance with the “southern wave” model) [4, 5]. The data obtained suggested that coloni- zation of East Asia occurred from the south to the north and that only during Upper Paleolithic these popula- tions have reached the north of China, Mongolia, and Siberia. The existing genetic differences between southern and northern East Asian populations were probably caused by the loss of genetic diversity during the process of migration of southern populations to the north of Asia [4]. Thus, one of the main tasks of ethnic genetics is investigation of genetic differentiation of the populations of East and Central Asia with the purpose of determining the levels of the regional gene pools dif- Restriction Polymorphism of Mitochondrial DNA in Koreans and Mongolians M. V. Derenko 1 , A. V. Lunkina 1 , B. A. Malyarchuk 1 , I. A. Zakharov 2 , Ts. Tsedev 3 , K. S. Park 4 , Y. M. Cho 4 , H. K. Lee 4 , and Ch. H. Chu 5 1 Institute of the Biological Problems of the North, Russian Academy of Sciences, Magadan, 685000 Russia; fax: (41322) 344-63; e-mail: mderenko@ibpn.kolyma.ru 2 Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991 Russia 3 Institute of Biological Sciences, Mongolian Academy of Sciences, Ulanbatar, 510351 Mongolia 4 Seoul National University, College of Medicine, Seoul, 151-742 Korea 5 Department of History, Kangwon National University, Chunchon, 200-701 Korea Received February 12, 2004; in final form, July 1, 2004 Abstract—Using the data on mitochondrial DNA (mtDNA) restriction polymorphism, the gene pools of Kore- ans (N = 164) and Mongolians (N = 48) were characterized. It was demonstrated that the gene pools were rep- resented 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. HUMAN GENETICS