Department of Forensic Odontology, Tokyo Dental College, Mihama-ku, Chiba City, Japan.
Int J Legal Med. 2010 Jan;124(1):7-12. doi: 10.1007/s00414-008-0308-5. Epub 2008 Dec 10.
We investigated control and coding region polymorphisms in mitochondrial DNA (mtDNA) in 100 unrelated individuals from a Japanese population and determined the basal phylogenetic haplogroup lineages in all samples under updated information. Many of the basal phylogenetic haplogroup lineages assigned on East Asian mtDNA haplogroups corresponded to those previously established. However, new haplogroup lineages such as M7a2a, M7a2b, M7a2*, M7c1b, M11b2*, G2b*, D4c1b1a, D4g2b, A4*, A9, N9b*, B4d1, B4d2, and F1e were identified and established by complete sequencing. Although sequence comparison of the 1.15-kb control region identified 84 mitochondrial haplotypes, examination of coding region polymorphisms increased the total number of haplotypes to 91. Determination of the basal haplogroup lineages increased the discrimination power of mtDNA polymorphisms for personal identification and their usefulness in determining geographic origin in forensic casework in Japanese and other East Asian populations.
我们调查了来自日本人群的 100 个无关个体中线粒体 DNA（mtDNA）的控制区和编码区多态性，并根据最新信息确定了所有样本中的基础系统发育单倍群谱系。许多被归类为东亚 mtDNA 单倍群的基础系统发育单倍群谱系与之前建立的谱系相对应。然而，通过完整测序，我们确定并建立了一些新的单倍群谱系，如 M7a2a、M7a2b、M7a2*、M7c1b、M11b2*、G2b*、D4c1b1a、D4g2b、A4*、A9、N9b*、B4d1、B4d2 和 F1e。虽然对 1.15kb 控制区的序列比较确定了 84 种线粒体单倍型，但对编码区多态性的检查将单倍型的总数增加到 91 种。确定基础单倍群谱系提高了 mtDNA 多态性在个人识别中的分辨能力，以及在日本和其他东亚人群的法医学工作中确定地理起源的有用性。
