河南汉族群体线粒体DNA Region V的遗传多态性

Genetic polymorphism in Region Ⅴ of mitochondrial DNA in Henan Han People

目的研究中国河南地区汉族人群线粒体DNA Region V区的遗传多态性。方法采用聚合酶链反应-聚丙烯酰胺凝胶电泳(PCR-PAGE)法对277份河南汉族样本的线粒体DNA RegionⅤ进行多态性分析,并随机选取部分DNA扩增产物进行测序予以确认。结果在河南汉族群体中发现标准型和缺失型2种多态类型,缺失型多态(即9 bp缺失)出现频率为15.88%。结论河南省汉族群体DNA RegionⅤ缺失型多态基因频率较低,与其他民族或人种有一定差异。

Objective To analyze the genetic polymorphism in region Ⅴ of mitochondrial DNA（mtDNA） in Henan Han people.Methods Polymerase chain reaction and polyacrylamide gel electrophoresis（PCR-PAGE） were adopted to study the DNA fragment in mtDNA Region Ⅴ,which came from 277 Henan Han people.Some samples were chose randomly and were analysed by direct sequencing of PCR products.Results Only two kinds of polymorphism were found in Henan Han people.One was standard type,the other was deletion type.The frequency of the 9 bp deletion was 15.88%.Conclusion The frequencie of 9 bp deletion in region Ⅴof mtDNA in Henan Han people is relatively low,and it is different from those in other people.