Y染色体3个SNP基因座及其单倍型的遗传多态性和群体差异

Genetic polymorphism and population diversity of three SNP loci and haplotypes on human Y chromosome

目的 探讨人类Y染色体3个SNP基因座及其单倍型的遗传多态性和群体差异。方法 应用PCR-RFLPs结合DNA序列分析技术,对140例来自中国藏族、日本、南非黑人及南非白人男性的Y染色体M4、M9和M122基因座的等位基因进行分析。结果 全部样品M4基因座的等位基因均为野生型M4A,未发现多态性。共检出3种单倍型,黑人个体均为野生型单倍型M4A/M9C/M122T。白人个体有8例单倍型为M4A/M9G/M122T,未检出等位基因M122C。日本及中国藏族群体以单倍型M4A/M9C/M122T为主,频率分别为0.50和0.65,未检出单倍型M4A/M9C/M122C,个人识别机率与父权排除率分别为0.6191和0.4994。单倍型频率分布在中国藏族和日本群体之间存在显著性差异(P<0.01)。结论 单倍型M4A/M9G/M122C为亚洲人特征,M9和M122基因座在中国藏族和日本群体中具有较高的遗传多态性,并显示出明显的人种和群体差异。

Objective To study the genetic polymorphism and population diversity of three SNP loci and their haplotypes on human Y Chromosome. Methods Genetic polymorphisms, population diversity and hap-lotypes of these SNP loci, M4, M9 and M122, on human Y chromosome, in 140 wnrelated individuals from Zang Nationality in China, Japanese, Negroes and white men from southern Africa were studied by using PCR-RFLPs and DNA sequencing analysis. Results No polymorphism was found on M4 locus, each sample was M4A. All samples were wild type. 3 haplotypes were found. In all Negroes there was a wild haplotype of M4A/M9C/M122T. A haplotype of M4A/M 9G/M122T were found in 8 white men. No M122C gene was found. The haplotypes of M4A/M9C/M122T were mainly found in both Japanese and Chinese, The haplotype frequencies in Japanese and Zang population in china were 0.5 and 0.65 respectively. The probability of discrimination power (DP) and the excluding probability of paternity (EPP) were 0.6191 and 0.4994 respectively and the haplotype of M4A/M9C/M122C was absent. There was a remarkable difference (P<0.01) of the above haplotypes between Japanese and the Zang nationality in China. Conclusion Haplotype of M4A/M9G/M122C was the characteristics of Asian males, Loci of M9, M122 have relatively high polymorphism and obvious population difference.