Horai S, Murayama K, Hayasaka K, Matsubayashi S, Hattori Y, Fucharoen G, Harihara S, Park K S, Omoto K, Pan I H
Department of Human Genetics, National Institute of Genetics, Shizuoka, Japan.
Am J Hum Genet. 1996 Sep;59(3):579-90.
Nucleotide sequences of the major noncoding (D-loop) region of human mtDNA from five East Asian populations including mainland Japanese, Ainu, Ryukyuans, Koreans, and Chinese were analyzed. On the basis of a comparison of 482-bp sequences in 293 East Asians, 207 different sequence types were observed. Of these, 189 were unique to their respective populations, whereas 18 were shared between two or three populations. Among the shared types, eight were found in common between the mainland Japanese and Koreans, which is the largest number in the comparison. The intergenic COII/tRNA(Lys) 9-bp deletion was observed in every East Asian population with varying frequencies. The D-loop sequence variation suggests that the deletion event occurred only once in the ancestry of East Asians. Phylogenetic analysis revealed that East Asian lineages were classified into at least 18 monophyletic clusters, though lineages from the five populations were completely intermingled in the phylogenetic tree. However, we assigned 14 of the 18 clusters for their specificity on the basis of the population from which the maximum number of individuals in each cluster was derived. Of note is the finding that 50% of the mainland Japanese had continental specificity in which Chinese or Koreans were dominant, while < 20% of either Ryukyuans or Ainu possessed continental specificity. Phylogenetic analysis of the entire human population revealed the closest genetic affinity between the mainland Japanese and Koreans. Thus, the results of this study are compatible with the hybridization model on the origin of modern Japanese. It is suggested that approximately 65% of the gene pool in mainland Japanese was derived from the continental gene flow after the Yayoi Age.
对包括日本本土人、阿伊努人、琉球人、韩国人和中国人在内的五个东亚人群的人类线粒体DNA主要非编码（D环）区域的核苷酸序列进行了分析。基于对293名东亚人482个碱基对序列的比较，观察到207种不同的序列类型。其中，189种是各自群体所特有的，而18种在两个或三个群体之间共享。在共享类型中，有8种在日本本土人和韩国人之间共同存在，这是比较中数量最多的。在每个东亚人群中都观察到了基因间COII/tRNA（Lys）9碱基对缺失，频率各不相同。D环序列变异表明，缺失事件在东亚人的祖先中只发生过一次。系统发育分析表明，东亚谱系至少被分为18个单系类群，尽管来自这五个群体的谱系在系统发育树中完全混合在一起。然而，我们根据每个类群中个体数量最多的群体的特异性，为18个类群中的14个进行了归类。值得注意的是，50%的日本本土人具有大陆特异性，其中中国人或韩国人占主导，而琉球人或阿伊努人中具有大陆特异性的比例不到20%。对整个人类群体的系统发育分析揭示了日本本土人和韩国人之间最密切的遗传亲和力。因此，本研究结果与现代日本人起源的杂交模型相符。有人提出，日本本土人约65%的基因库来自弥生时代之后的大陆基因流动。
