Genetic analysis of 39 Y-STR loci in a Han population from Henan province, central China

A total of 39 Y-chromosomal short tandem repeat (Y-STR) loci included in the advanced commercial six-dye multiplex system (AGCU Database Y30 kit) and a custom-designed four-dye multiplex system were investigated in 259 unrelated healthy Chinese males residing in Henan Province, central China. The haplotype diversity (HD) values were 0.99997 and 1.0000 for the six and four fluorescent-multiplex amplification systems, respectively. The discrimination capacity (DC) values were 0.9961 and 1.0000, respectively. When the 39 Y-STR loci were considered, 259 unique haplotypes were obtained in Henan Han individuals with both the haplotype diversity and discrimination capacity being 1.000. The gene diversity (GD) of 39 Y-STR loci in the studied group ranged from 0.3956 (DYS588) to 0.9990 (DYF403S1). Population comparisons between the Henan Han and 24 reference groups were performed. Both multidimensional scaling plots and phylogenetic analysis demonstrated that significant genetic differences existed between Henan Han and reference ethnic minorities of China, particularly the Tibetan, Uighur, and Mongolian populations. Moreover, the results indicated that 39 Y-STRs included in the two fluorescent-multiplex amplification systems are highly polymorphic and informative in the studied populations and can be employed as complementary tools for forensic application and human genetics research.