Population Study of Y-chromosome STR Haplotypes in Koreans / 대한법의학회지

ABSTRACT

The Y-chromosome short tandem repeat (STR) systems including DYS391, DYS389I/II, DYS439, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390 and DYS385 (PowerPlex Y System, Promega) were investigated in 569 Korean males (the Central region). A total of 473 haplotypes were observed in the 569 individuals studied, of which 426 (90.06%) were unique. The overall haplotype diversity for the 12 Y-STR loci was 0.9985, and the discrimination capacity was 0.8313. The gene diversity varied from 0.2586 at DYS391 to 0.9558 at DYS385. We scrutinized for the presence of non-standard (intermediate and duplicated) alleles among Y chromosome STR haplotypes. Three mutations were identified in three short tandem repeat (STR) loci DYS439, DYS19 and DYS385. In DYS439, we found a new mutant allele that added an A at upstream of the first GATA motif of the repeat region. The allele was designated 11.1 according to the sequence structure. We also detected a duplicate allele in DYS19 and a triplicate allele at DYS385 locus.