Population Genetics of the Hypervariable Locus D12S391 in Korean.

Lee, Yong Woog; Kang, Il Ho; Kim, Seong Min; Lee, Hae Lin; Koo, Tai Wan; Lee, Hye Seung; Han, Gil Ro

Original article

Korean Journal of Legal Medicine 1999;23(1):63-71.
Published online May 31, 1999.

Population Genetics of the Hypervariable Locus D12S391 in Korean.

Yong Woog Lee, Il Ho Kang, Seong Min Kim, Hae Lin Lee, Tai Wan Koo, Hye Seung Lee, Gil Ro Han

Abstract

The hypervariable short tandem repeat (STR) locus D12S391 was investigated in a Korean population. A total of 14 alleles were detected by size under denaturing conditions in 517 unrelated individuals. To confirm all of the alleles detected in a Korean population, a total of 34 fragments were sequenced. Prior to allele designation, we constructed the allelic ladders containing 11 alleles sequenced in this study. Allele 18 is the most common with a frequency of 0.281 in Koreans, and one variant allele 19.3 which have been confirmed by sequencing, was detected. The observed heterozygosity, the power of discrimination (PD), and the mean exclusion chance (MEC) for the locus D12S391 is 0.781, 0.946 and 0.652, respectively. No deviation from Hardy-Weinberg equilibrium was observed in a Korean population (p=0.557). In the 424 meioses in 105 Korean families confirmed using other 17 STR loci, no mutation was detected in locus D12S391. The STR locus D12S391system is useful both for the analysis identification and parternity.

Key Words: D12S391, Allele Frequency, STR, Population study, Sequence analysis