Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population
Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population
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DOI：
10.1007/s00414-003-0379-2
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发表时间：
2003-08-01
影响因子：
2.1
通讯作者：
Saitou, N
中科院分区：
文献类型：
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作者：
Maruyama, S;Minaguchi, K;Saitou, N
对211名日本无关个体的高变量线粒体DNA(MtDNA)HVI、HVII区序列多态和编码区多态进行了研究。HVI和HVII区的序列比较导致了由147个可变位置定义的169个线粒体单倍型的鉴定。其中145个类型仅在1个个体中观察到，其余24个类型由2个或2个以上个体共享。基因多样性估计为0.9961，从群体中随机选择的两个个体具有相同mtDNA类型的概率为0.86%。我们还根据编码区和控制区的多态性建立了日本人的系统发育单倍群，并与其他日本人、韩国人和中国人的单倍型进行了比较。结果确定了三个新的亚单倍群，G4a、G4b和N9b，以及几个日本和韩国人群特有的单倍型。本数据库不仅可以用于个人身份识别，还可以在日本法医案件中作为地理或表型(种族)估计的辅助工具。
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.