内蒙古地区蒙古族男性七个Y染色体单核苷酸多态性位点的遗传多态性

Study of genetic polymorphisms of 7Y chromosome single nucleotide polymorphism loci among Mongolians from Inner Mongolia Region

目的检测7个Y染色体单核苷酸多态性(Y chromosome single nucleotide polymorphism,Y-SNP)位点在内蒙古自治区蒙古族无关男性中的分布,为其法医学应用提供基础数据。方法从HapMap等数据库及相关文献进行筛选,获得在蒙古族中二等位基因频率预期接近0.50:0.50的7个Y-SNP,以连接酶检测反应法对95名蒙古族无关男性DNA的7个Y-SNP进行检测,用Arlequin 3.5软件进行统计分型。结果7个Y-SNP均检测到2个等位基因,在95名个体中共检测到7个Y-SNP单倍型,单倍型差异度值为0.7990;rs17316007位点的2个等位基因频率为0.832:0.168、偏离0.50:0.50较多,基因差异度值为0.2825;其余6个Y-SNP位点的2个等位基因的频率均接近0.50:0.50,基因差异度值不低于0.4375。结论在7个Y-SNP中,除rs17316007外,其余6个位点具有较好的基因差异度和遗传多态性,可用于内蒙古地区蒙古族男性的个体识别和亲权鉴定。

Objective To study the genetic polymorphisms of 7Y chromosome single nucleotide polymorphisms (Y-SNPs)among unrelated Mongolian males from Inner Mongolia Region.Methods Seven Y-SNPs with expected allelic frequencies close to 0.50:0.50 in Mongolian population were selected from databases including HapMap and relevant literature.The Y-SNPs were then analyzed among 95 unrelated male Mongolian DNA samples with ligase detection reaction (LDR)technique.Statistical analysis was carried out with Arlequin 3.5.Results All of the 7Y-SNPs had 2 alleles.Seven haplotypes were identified among the 95 samples,with the haplotype diversity (HD)being 0.7990.Except for rs17316007,whose allelic frequencies was 0.832:0.168,each of the remaining Y-SNPs had a allelic frequency close to 0.50:0.50.The gene diversity (GD)for rs17316007was 0.2825,while those of the remaining Y-SNPs were all greater than 0.4375.Conclusion Except for rs17316007,the other 6Y-SNPs showed good diversity and genetic polymorphism,and may be used for individual identification and-paternity testing for the Inner Mongolia region.