中国蒙古族群体mtDNA测序的聚类分析及其法医学意义

目的建立一种既节省模板、又能延长测序长度的m tDNA单倍型(群)分析方法,构建中国蒙古族mtDNA单倍型类型关系树。方法用复合扩增、巢式PCR对201名中国蒙古族m tDNA样本进行D-环区、3010~3460、4640~5204、10171~10659和14478~15204编码区域的测序分析,部份样品进行L3953/H4508等区域的测序;根据其多态界定各样本单倍型并进行聚类分析。结果L15996/H107等巢式PCR扩增产物经测序检验结果互不干扰,其分型以A等东亚人群常见的单倍型(群)为主,包括部份HV、K、J、I和U等欧洲人群优势单倍型(群),23个单倍群和共53个单倍型全部归为欧亚人群特有的M和N两大类单倍类群并呈巢式聚类。结论本研究选取的测序区域适用于构建我国各民群的m tDNA单倍型(群);复合扩增、巢式PCR法既节省模板DNA,又延长测序的长度,适用于法医学、考古学研究中的微量样本的检测。

Mitochondrial DNA polymorphism of mongolians populations in China and its forensic evaluation

Objective In order to establish an economical and effective mitochondrial DNA(mtDNA) analysis method.Methods Using multiple and nested PCR analysis method,we have analyzed the mtDNA sequence of D-loop、3010～3460、4640～5204、10171～10659 and 14478～15204 region from 201 south and north Mongolians.3953～4508 etc other coding region was also sequenced in some samples.Results Apart from the D-loop,the coding region 4640～5204、10171～10659 and 14478～15204 of Mongolians mtDNA is also polymorphic and the main mtDNA classification tree of mtDNA haplogroups in Mongolians were constructed.Conclusion Multi and nested PCR method of mtDNA analysis method had been successfully established which provided an economical and effective mitochondrial DNA(mtDNA) analysis method for Chinese populations.