Genetic polymorphism and population diversity of three SNP loci and haplotypes on human Y chromosome / 中国法医学杂志

ABSTRACT

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