Genetic diversity of 71 Y-chromosomal biallelic markers in the Han population living in Southern China

Abstract Polymorphic markers located on Y chromosome represent an important complement for special kinship cases. We analyzed 71 Y-chromosomal biallelic markers including 65 SNPs and 6 insertion/deletion events in a sample of 201 unrelated Han males living in Southern China. Genomic DNA was extracted from blood samples. Typing of 71 biallelic markers was performed using the MassARRAY MALDI-TOF MS platform (Agena Inc.). Allelic frequencies, gene diversities (GD) and haplotype diversity (HD) was calculated. Comparisons were then carried on with our previous data from Northwestern Han populations. Out of the 71 markers, five loci were not polymorphic (GD=0), 29 loci were found to be low informative (0.01