Hatta Y, Ohashi J, Imanishi T, Kamiyama H, Iha M, Simabukuro T, Ogawa A, Tanaka H, Akaza T, Gojobori T, Juji T, Tokunaga K
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Japan.
Hum Biol. 1999 Jun;71(3):353-65.
Polymorphism of HLA genes was investigated in a population sample of Ryukyuans living on the main island of Okinawa (n = 197), in the southwestern islands of Japan. Serological typing was applied to class I loci (HLA-A, -B, and -C) and to HLA-DRB1; nucleotide sequence-level typing was performed using PCR microtiter plate hybridization and PCR single-strand conformation polymorphism methods. Ryukyuans showed a higher frequency of DRB10405 and lower frequencies of DRB11502 and DRB11302 compared with Hondo Japanese living on main islands. Principal components and phylogenetic analyses of 12 East Asian populations, including Ryukyuans, were performed based on the allele frequencies of HLA-A, -B, and -DRB1. In the principal components analysis 3 Japanese populations (Ryukyuans, Hondo Japanese, and Ainu) formed a cluster and showed the highest affinity to 2 Korean populations. In the phylogenetic tree Ryukyuans and Ainu were neighbors, but the genetic distance between them was larger than the distances between Ryukyuans and Hondo Japanese and between Ryukyuans and Korean populations. The geographic cline of the predominant haplotype in Ryukyuans, A24-B54-DRB10405, suggests that an ancestral population possessing A24-B54-DRB1*0405 moved into the Okinawa Islands after the divergence of Ryukyuans from the Ainu. Such a recent gene flow, probably from South China to the Okinawa Islands, is considered the major cause of difference in genetic characteristics between Ryukyuans and the Ainu.
在日本西南部岛屿冲绳主岛居住的琉球人群体样本（n = 197）中，对HLA基因的多态性进行了研究。血清学分型应用于I类基因座（HLA - A、- B和 - C）以及HLA - DRB1；使用PCR微量滴定板杂交和PCR单链构象多态性方法进行核苷酸序列水平的分型。与居住在主要岛屿的本州日本人相比，琉球人显示出DRB10405的频率较高，而DRB11502和DRB11302的频率较低。基于包括琉球人在内的12个东亚人群的HLA - A、- B和 - DRB1等位基因频率，进行了主成分分析和系统发育分析。在主成分分析中，3个日本人群（琉球人、本州日本人、阿伊努人）形成一个聚类，并显示出与2个韩国人群的最高亲和力。在系统发育树中，琉球人和阿伊努人是相邻的，但他们之间的遗传距离大于琉球人和本州日本人之间以及琉球人和韩国人群之间的距离。琉球人主要单倍型A24 - B54 - DRB10405的地理渐变表明，在琉球人与阿伊努人分化之后，拥有A24 - B54 - DRB1*0405的祖先群体迁入了冲绳岛。这种近期的基因流动，可能是从中国南方流向冲绳岛，被认为是琉球人和阿伊努人在遗传特征上存在差异的主要原因。
