河南汉族人群9个Y染色体短串联重复序列单倍型遗传多态性

Haplotype genetic polymorphism of 9 Y-STR in Henan Han population

目的:检测河南汉族人群中DYS456、DYS389Ⅰ、DYS392、DYS389Ⅱ、H4、A7.1、DYS448、DYS393及DYS439等9个Y染色体短串联重复序列(Y-STR)位点构建的单倍型遗传多样性。方法:180名河南汉族健康无关男性个体、50名女性个体及经常染色体STR检测确定的20对真父子和20对非父子为测定对象,应用PCR-聚丙烯酰胺凝胶电泳及银染显带技术分析上述9个Y-STR位点等位基因及单倍型分布情况。结果:180名河南汉族健康无关男性个体中上述9个位点的等位基因检出数目分别为5、5、8、7、5、5、7、5和5个,基因多样性分别为0.6501、0.6330、0.8147、0.7633、0.5858、0.6857、0.7521、0.7019和0.6472,共检测出180种由上述9个Y-STR位点构建的单倍型,单倍型多样性为1。50名女性样本中均未检测到任何扩增产物。在20对真父子样本中,各父子对的9个Y-STR位点检测结果均完全一致。在20组非父子样本中,各非父子对均有至少5个Y-STR位点的检测结果不一致。结论:上述9个Y-STR位点构建的Y-STR单倍型具有较高的遗传多态性。

Aim：To detect haplotype genetic ploymorphism of DYS456,DYS389I,DYS392,DYS389Ⅱ,H4,A7.1,DYS448,DYS393 and DYS439 in Henan Han ethnic group.Methods：PCR-polyacrylamide gel electrophoresis and silver staining were used to detect gene diversity and haplotype diversity of 9 Y-STR loci in 180 Henan Han ethnic group.Real father-son and non father-son determined by chromosome STR testing,and 50 women were the validation group.Results：The number of allele frequency of 9 Y-STR loci was 5,5,8,7,5,5,7,5 and 5,gene diversity was 0.650 1,0.633 0,0.814 7,0.763 3,0.585 8,0.685 7,0.752 1,0.701 9 and 0.647 2,respectively.180 kinds of loci haplotypes were detected,and haplotype diversity was 1.Nothing PCR products was found in validation group of women.The results were in 20 real father-son group.Every non father-son group was found that at least 5 Y-STR loci was different.Conclusion：Y-STR haplotypes based on the 9 Y-STR loci built has highly genetics polymorphism.