Lee Hwan Young, Yoon Jung Ah, Yang Woo Ick, Shin Kyoung-Jin
Department of Forensic Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, South Korea.
Leg Med (Tokyo). 2013 Jan;15(1):50-4. doi: 10.1016/j.legalmed.2012.08.002. Epub 2012 Sep 13.
The mitochondrial DNA (mtDNA) haplogroup typing has become an essential tool to study human evolutionary history and to infer the matrilineal bio-geographic ancestry. In forensic field, the screening of mtDNA haplogroups by genotyping of mtDNA single nucleotide polymorphisms (SNPs) can help guarantee the quality of mtDNA sequence data as well as can reduce the need to sequence samples that do not match. Here, a multiplex mutagenically separated (MS) polymerase chain reaction (PCR) system was developed for simultaneous rapid detection of 14 coding region SNPs and one deletion motif representing common mtDNA haplogroups of East Asia. The multiplex MS PCR system we developed has the advantage of being a one step procedure that requires only a single PCR amplification with allele-specific primers and allowing straightforward designation of haplogroups along the branches of the phylogenetic tree. Therefore, it would be a simple, rapid, and reliable detection method useful for large-scale screening of mtDNA variations to determine East Asian mtDNA haplogroups.
线粒体DNA（mtDNA）单倍群分型已成为研究人类进化历史和推断母系生物地理祖先的重要工具。在法医领域，通过对mtDNA单核苷酸多态性（SNP）进行基因分型来筛选mtDNA单倍群，有助于保证mtDNA序列数据的质量，同时减少对不匹配样本进行测序的需求。在此，我们开发了一种多重诱变分离（MS）聚合酶链反应（PCR）系统，用于同时快速检测14个编码区SNP和一个代表东亚常见mtDNA单倍群的缺失基序。我们开发的多重MS PCR系统的优势在于它是一个一步法程序，仅需使用等位基因特异性引物进行一次PCR扩增，并能沿系统发育树的分支直接指定单倍群。因此，它将是一种简单、快速且可靠的检测方法，可用于大规模筛选mtDNA变异以确定东亚mtDNA单倍群。
