Analysis of mitochondrial DNA control region and forensic applications

线粒体DNA的小尺寸和它在每个细胞中存在的许多拷贝使得它在只有少量材料可用或材料严重降解时对人类DNA修复很有用。mtDNA高变区1和2 （HV1和HV2）的序列信息为法医学鉴定提供了强有力的工具。mtDNA序列是为居住在日本的95名无血缘关系的捐赠者生成的。在HV1和HV2区域共观察到91种不同的单倍型。利用扩增产物长度多态性（APLP）对编码区6个突变位点进行了分型。其中B1和C2两种单倍型分布在日本人群中。单倍型A1、A2、B2、B3和C2主要局限于蒙古类群。对8例尸体解剖进行了身份鉴定。每具尸体都严重受损，无法获得指纹和牙齿信息来进行个人识别。在所有病例中，可以扩增和测序控制区域，8例中有6例阳性鉴定。

The small size of the mitochondrial DNA and its presence in many copies per cell make it useful for human DNA tyring when only small amounts of material are available or when the material is badly degraded. The sequence information of the mtDNA hypervariable regions 1 and 2 (HV1 and HV2) provided a robust tool for identification purposes relevant for the forensic science.The mtDNA sequence were generated for 95 unrelated donors living in Japan. A total 91 different haplotypes were observed for HV1 and HV2 regions.We typed six mutation sites in the coding region by use of amplified produet - length polymorphism (APLP) analysis. Two of these haplotypes, B1 and C2 were distributed in Japanese population. Moreover, the haplotypes A1, A2, B2, B3, and C2, were mostly restricted to the Mongoloid populations.Personal identification were performed in 8 autopsy cases. Each cadaver was severely damaged, and neither fingerprint nor dental information could be obtained for personal identification. In all cases, it was possible to amplify and sequence the control regions, resulting in positive identification in 6 of 8 cases.