线粒体DNA分析的最新进展。
Recent progress in mitochondrial DNA analysis.
作者信息
Umetsu Kazuo, Yuasa Isao
机构信息
Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata 990-9585, Japan.
出版信息
Leg Med (Tokyo). 2005 Jul;7(4):259-62. doi: 10.1016/j.legalmed.2005.01.005.
In this review, we describe the current state of knowledge of mitochondrial genetics of East Asian populations and its application to forensic science. Recent advances in mitochondrial DNA (mtDNA) phylogeny have identified haplogroup-specific single nucleotide polymorphisms (SNPs) and the control region motifs of haplogroups. By analyzing haplogroup-specific SNPs, we can rapidly and accurately connect the mtDNA under study to the relevant haplogroup. Haplogroups are fairly continent- and/or region-specific; therefore, we can infer the ethnic background of that mtDNA. In addition, errors in hypervariable region sequences can be detected by means of haplogroup motif analysis.
在本综述中，我们描述了东亚人群线粒体遗传学的当前知识状态及其在法医学中的应用。线粒体DNA（mtDNA）系统发育学的最新进展已经确定了单倍群特异性单核苷酸多态性（SNP）以及单倍群的控制区基序。通过分析单倍群特异性SNP，我们可以快速准确地将所研究的mtDNA与相关单倍群联系起来。单倍群具有相当的大陆和/或区域特异性；因此，我们可以推断该mtDNA的种族背景。此外，通过单倍群基序分析可以检测高变区序列中的错误。
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