Maruyama Sayaka, Minaguchi Kiyoshi, Saitou Naruya
Department of Forensic Odontology, Tokyo Dental College, 1-2-2 Masago Mihama-ku, 261-0011, Chiba City, Japan.
Int J Legal Med. 2003 Aug;117(4):218-25. doi: 10.1007/s00414-003-0379-2. Epub 2003 Jul 5.
Sequence polymorphisms of the hypervariable mitochondrial DNA (mtDNA) regions HVI and HVII, and coding region polymorphisms were investigated in 211 unrelated individuals from the Japanese population. Sequence comparison of the HVI and HVII regions led to the identification of 169 mitochondrial haplotypes defined by 147 variable positions. Among them 145 types were observed in only 1 individual; the other 24 types were shared by 2 or more individuals. The gene diversity was estimated at 0.9961, and the probability of two randomly selected individuals from the population having identical mtDNA types was 0.86%. We also established phylogenetic haplogroups in the Japanese population based on the coding and control region polymorphisms and compared the haplotypes with those in other Japanese, Korean and Chinese populations. As a result, three new subhaplogroups, G4a, G4b, and N9b, and several haplotypes specific for the Japanese and Korean populations were identified. The present database can be used not only for personal identification but also as an aid for geographic or phenotype (race) estimation in forensic casework in Japan.
我们对211名来自日本人群的无血缘关系个体的高变线粒体DNA（mtDNA）区域HVI和HVII的序列多态性以及编码区多态性进行了研究。对HVI和HVII区域的序列比较导致鉴定出由147个可变位点定义的169种线粒体单倍型。其中，145种类型仅在1个人中观察到；其他24种类型由2个或更多个体共享。基因多样性估计为0.9961，从该人群中随机选择的两个个体具有相同mtDNA类型的概率为0.86%。我们还基于编码区和控制区多态性在日本人群中建立了系统发育单倍群，并将这些单倍型与其他日本、韩国和中国人群的单倍型进行了比较。结果，鉴定出了三个新的亚单倍群G4a、G4b和N9b，以及一些日本和韩国人群特有的单倍型。本数据库不仅可用于个人识别，还可作为日本法医案件中地理或表型（种族）估计的辅助工具。
