Population Study of Y-chromosome STR Haplotypes in Koreans.

Cho, Nam Soo; Hwang, Jung Ho; Han, Myun Soo; Kwon, Tae Ik; Park, Il Hyun

Original article

Korean Journal of Legal Medicine 2005;29(2):181-188.
Published online October 31, 2005.

Population Study of Y-chromosome STR Haplotypes in Koreans.

Nam Soo Cho, Jung Ho Hwang, Myun Soo Han, Tae Ik Kwon, Il Hyun Park

¹Department of Forensic Medicine, Central District Office, National Institute of Scientific Investigation, Daejeon, Korea. cns6999@nisi.go.kr
²DNA analysis division, National Institute of Scientific Investigation, Seoul Korea.
³Department of Biochemistry, Chungnam National University, Daejeon Korea.

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.

Key Words: Y-STRs, Haplotype, Mutation, PowerPlex Y System, Koreans