河南汉族群体4个Y-STR基因座的遗传多态性

目的研究Y染色体4个STR基因座DYS531、DYS709、DYS448、DYS522及其单体型在河南地区106例汉族男性无关个体的遗传多态性。方法荧光标记引物聚合酶链式反应(PCR)扩增,ABI3100遗传分析仪上毛细管电泳分析PCR产物,并对不同重复序列分别测序。结果DYS531、DYS709、DYS448、DYS522基因座的核心序列重复数目变异分别在9～13、12～18、19～25、8～13次,基因多样性(GD)分别为0.642 8、0.769 6、0.767 7、0.691 3;4个Y-STR基因座所组成的单体型有69种,仅出现1次的单倍型有44种类型(占41.5%),这种单体型基因多样性(HD)为0.990 4,个体识别力达0.981 1。结论DYS531、DYS709、DYS448、DYS522基因座组成的单体型具有高度的多态性,适用于法医学实践和人类进化的研究。

Analysis of genetic polymorphism of four Y-STR loci of Han people in Henan province

Objective To study the genetic polymorphism and haplotype of DYS531,DYS709,DYS448 and DYS522 loci of 106 Han people in Henan province.Methods The fluorescent dye primer were amplified by using polymerase chain reaction(PCR),the PCR products were analyzed by capillary electrophoresis on ABI3100 genetic analysator,and the repeated sequences were sequenced respectively.Results The number of variant repeart of DYS531,DYS709,DYS448 and DYS522 wwere from 9 to 13,from 12 to 18,from 19 to 25,from 8 to 13,and the gene diversity were 0.642 8,0.769 6,0.767 7 and 0.691 3 respectively.Sixy-nine haplotypes were identified in 106 unrelated men from Henan Han people.Out of them 44 types were observed once only.The haplotype diversity(HD) and the discriminating power(DP) were 0.990 5 and 0.981 1,respectively.Conclusion The haplotype composed of DYS531,DYS709,DYS448,DYS522 loci is highly polymorphic and useful for applying to forensic science and human evolutionary study.