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

Objective To study the genetic polymorphisms of 7 Y 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 7 Y-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 rs17316007 was 0.2825, while those of the remaining Y-SNPs were all greater than 0.4375. Conclusion Except for rs17316007, the other 6 Y-SNPs showed good diversity and genetic polymorphism, and may be used for individual identification and paternity testing for the Inner Mongolia region. Key words: Mongolian; Y chromosome; Single nucleotide polymorphism; Genetic polymorphism