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

Kim, Soon Hee; Kim, Nam Ye; Kim, Kyung Sook; Kim, Jong Jin; Park, Jong Tae; Chung, Ki Wha; Han, Myun Soo; Kim, Won

doi:10.1016/j.fsigen.2008.06.004

« Previous Next »Forensic Science International: Genetics
Volume 3, Issue 2 , Pages e53-e54, March 2009

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

Soon Hee Kim
- DNA Analysis Division, National Institute of Scientific Investigation, Seoul 158-097, Republic of Korea
- School of Biological Sciences, Seoul National University, San56-1, Sillim-dong, Gwanak-gu, Seoul 151-742, Republic of Korea
Nam Ye Kim
- DNA Analysis Division, National Institute of Scientific Investigation, Seoul 158-097, Republic of Korea
- Department of Medicine, Jeonnam National University, Gwangju 501-746, Republic of Korea
Kyung Sook Kim
- DNA Analysis Division, National Institute of Scientific Investigation, Seoul 158-097, Republic of Korea
Jong Jin Kim
- DNA Analysis Division, National Institute of Scientific Investigation, Seoul 158-097, Republic of Korea
Jong Tae Park
- Department of Medicine, Jeonnam National University, Gwangju 501-746, Republic of Korea
Ki Wha Chung
- Department of Biological Sciences, Kongju National University, Kongju 314-701, Republic of Korea
Myun Soo Han
- DNA Analysis Division, National Institute of Scientific Investigation, Seoul 158-097, Republic of Korea
Won Kim
- School of Biological Sciences, Seoul National University, San56-1, Sillim-dong, Gwanak-gu, Seoul 151-742, Republic of Korea
- Corresponding author. Tel.: +82 2 880 6695; fax: +82 2 872 1993.

Received 21 November 2007; received in revised form 10 May 2008; accepted 13 June 2008. published online 04 August 2008.

Abstract

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]_nttc[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 1.10×10⁻³/locus/generation (95% CI 0.31–1.89×10⁻³).