Population Genetics of 23 Y-Chromosomal STR Loci in South Koreans
한국인 집단에서 23개 Y-STR 유전자좌위들에 대한 집단유전학적 분석
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초록
Haplotypes and allele frequencies of 23 Y-chromosomal STR loci included in the PowerPlex® Y23system and the AmpFlSTR® YfilerTM kit were obtained from a sample of 301 unrelated individuals living inSouth Korea. The PowerPlex® Y23 system configuration contains 17 loci of the AmpFlSTR® YfilerTM kit and6 new recommended loci (DYS576, DYS481, DYS549, DYS533, DYS570, and DYS643). A total of 300haplotypes were observed in the 301 individuals studied, of which 299 were unique. The overall haplotypediversity for the 23 Y-STR loci was 0.99998, and the discrimination capacity was 0.99668. We found 10 atypicalalleles, including null, triplicated and microvariant alleles. Especially, DYS570 19.1 allele and 19.3 (5 individuals,1.7%) is frequently observed in our study. The concordance study made for this population data revealed nodiscordant allele between the kits. The results indicate that these 23 loci are useful genetic markers for forensicpersonal identification and paternity testing in the Korean population.
Abstract
연관되지 않는 한국인 301명 대상자에 대해 PowerPlex® Y23 system (Promega) 및 AmpFlSTR®YfilerTM kit (Applied Biosystems)에 포함된 23개 Y 염색체 STR 유전자좌위들을 분석하여 하플로타입과대립유전자 빈도 계산을 수행하였다. PowerPlex® Y23 system은 AmpFlSTR® YfilerTM kit에 포함된 17개마커와 6개의 새로운 마커 (DYS576, DYS481, DYS549, DYS533, DYS570, DYS643)를 포함한다. 301명에 대한 23개 Y 염색체 STR 유전자좌위들의 데이터를 분석한 결과, 300개의 하플로타입이 관찰되고, 전체 23개 유전자좌위들에 대한 하플로타입 다양성(haplotype diversity)은 0.99998, 식별력(discriminationcapacity)은 0.99668로 계산되었다. 총 10명에게서 null (1명), triplicated (2명) 및 microvariant (7명) 대립유전자가 확인되고, 특히, DYS570 좌위는 5명(1.7%)에서 19.1 또는 19.3 microvariant 대립유전자가 관찰되었다. 두 개의 분석 kit (AmpFlSTR® YfilerTM kit 및 PowerPlex® Y23 system)에서 불일치 결과는 확인되지 않았다. 따라서, 본 연구에서 분석된 23개 Y-STR 유전자좌위들은 한국인 집단에서 개인 식별 및 친자확인에 있어 유용한 마커임을 확인할 수 있었다.
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