Yuasa Isao, Umetsu Kazuo, Adachi Noboru, Matsusue Aya, Nakayashiki Nori, Fujihara Junko, Akane Atsushi, Harihara Shinji, Jin Feng, Ishikawa Takaki
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.
Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan.
Leg Med (Tokyo). 2015 Jan;17(1):52-5. doi: 10.1016/j.legalmed.2014.08.006. Epub 2014 Sep 8.
Japanese-specific alleles are expected to be powerful markers for the differentiation of the Japanese from other people. In this study, three single nucleotide polymorphisms (SNPs) in the GALNT11, H19, and PLA2G12A genes were analyzed in 2396 DNA samples from 25 global populations, and the derived alleles suggested that Japanese-specific alleles exist on autosomes. To identify new Japanese-specific alleles, candidate SNPs obtained from the HapMap database were investigated using 875 DNA samples from nine populations. A total of 67 (nearly) Japanese-specific derived alleles were observed. Of them, 57 showed higher frequencies in the Ryukyuans, living in the southernmost part of the Japanese Archipelago, than in the Wajins living in mainland Japan, and 43 were also present in Koreans at low frequencies. Jomon skeletons excavated from Hokkaido, the northernmost island of Japan, showed higher frequencies of the three derived alleles in the GALNT11, H19, and PLA2G12A genes than the Ryukyuans, suggesting that most of the 57 derived alleles observed at the high frequencies in the Ryukyuans originated from the Jomon lineage. These novel markers will be useful in the field of forensics.
日本特有的等位基因有望成为区分日本人和其他人种的有力标记。在本研究中，对来自25个全球人群的2396份DNA样本分析了GALNT11、H19和PLA2G12A基因中的三个单核苷酸多态性（SNP），而衍生等位基因表明常染色体上存在日本特有的等位基因。为了鉴定新的日本特有的等位基因，使用来自九个群体的875份DNA样本对从HapMap数据库获得的候选SNP进行了研究。总共观察到67个（近乎）日本特有的衍生等位基因。其中，57个在居住于日本列岛最南端的琉球人中的频率高于居住在日本本土的和人，并且43个在韩国人中也有低频出现。从日本最北部岛屿北海道发掘出的绳文人骨骼显示，GALNT11、H19和PLA2G12A基因中的三个衍生等位基因的频率高于琉球人，这表明在琉球人中高频观察到的57个衍生等位基因中的大多数起源于绳文谱系。这些新标记将在法医学领域发挥作用。
