Population genetics and mutational events at 6 Y-STRs in Korean population

Haplotype frequencies for 6 Y-STRs (DYS522, DYS533, DYS549, DYS570, DYS576 and DYS643) were determined in 539 unrelated Korean males. A total of 375 haplotypes were observed with the overall haplotype diversity of 0.9967. In DYS570, we found new point-3 microvariant allele series, i.e., 18.3, 19.3 and 20.3. DNA sequence analysis showed that the full repeat sequences were [TTTC](n)ttc[TTTC](5). Duplicated DYS643 allele was found and discussed on its forensic impact on the Y-STR interpretation of male-male mixtures. In 140 confirmed father/son pairs, one mutation was found in DYS576 with the overall mutation rate of 1.10 x 10 (3)/locus/generation (95% CI 0.31-1.89 x 10 (3)). (C) 2008 Elsevier Ireland Ltd. All rights reserved.