疾病机理遗传学和进化医学学科组（姚永刚）知识库

基于线粒体DNA(mtDNA)的研究对于人群源流迁移、线粒体相关疾病病因的探讨和法医鉴定等具有重要意义,就检测人线粒体突变的一些常用方法,如RFLP、SSO和控制区测序等作一小结和归纳,并重点介绍目前mtDNA突变的筛选方法和思路。另外,还总结了近年来对人mtDNA方面的研究结果,对世界人群中主要单倍型类群(haplogroup)特征变异位点和相应的酶切检测引物作了归纳。

Mitochondrial DNA variation analyses have been extensively used in the past two decades,mainly on tracing the origin and migration pattern of human populations,the molecular mechanism of mitochondrial diseases as well as on forensic identification.In this paper,we reviewed many ordinary methods that were used for hu man mtDNA mutation typing,such as RFLP,SSO,and control region sequencing,with special emphasis on the thoughts on choosing which method to detect mutations.By grouping the recent phylogenetic results about human mtDNA,we listed specific variation sites and corresponding primers for major haplogroups identification in the world.The approach that work with control region data for stable motifs of haplogroups supplemented by additional diagnostic site confirmations by RFLP or sequencing in coding regions should be a main method in the future study about human mtDNA lineages.