DowID Coreplex 20 STR 개발키트의 유효성 검증 및 한국인의 집단유전학적 분석
Developmental Validation and Korean Population Data from the DowID Coreplex 20 STR Typing Kit
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초록
본 연구에서는 상용화된 제품의 18종 STR 마커를 포함하고, 2종 STR 마커(D6S1043, D8S1477)를추가하여, 총 20종의 STR 마커를 동시에 증폭이 가능한 DowID coreplex 20 STR 키트를 개발하였다. 본개발 키트를 사용하여 서로 혈연관계가 아닌 한국인 651명을 분석하여 검증한 결과, PIC 값은 평균 0.77, PD 값은 평균 0.92로 나타났으며, 이중 Penta E와 D6S1043의 PD 값은 각각 0.99와 0.97로 매우 높은 식별력을 갖는 것으로 나타났다. 또한, 개체간 유전자형이 일치할 확률을 나타내는 값인 PM 값은 2×10−23로나타남을 확인할 수 있었다. SWGDAM의 “Validation Guidelines for DNA Analysis Methods (2012)” 기준 및 KOLAS 국제공인시험 규격(DOW-LQI-11:2017)으로 인정된 시험법에 따라 개발 키트를 검증한 결과, 국제 기준 내에서 매우 정확하게 식별되며 민감도가 높음을 입증하였다. 뿐만 아니라, 반응 억제제 검증에서도 Humic acid 37.5 ng/μL까지는 모든 유전자형이 검출되는 것으로 확인되어, 개인식별 및 친자확인 검사에 대체 키트로 사용됨은 물론 범죄사건의 미량 DNA 시료 분석에도 활용이 기대된다.
Abstract
Here, we report the development of the in-house STR kit DowID coreplex20 that contains 20 STR markers: the 18 original Powerplex16’s and Identifiler’s STR loci including amelogenin and addition to two STR loci (D6S1043, D8S1477). In this study, the kit was used to examine the STR loci of 651 Koreans who were not related to each other. The average PIC (polymorphism information content) value was 0.77 and the average PD (power of discrimination) value was 0.92. Penta E and D6S1043 were 0.99 and 0.97, respectively, which showed very high discrimination power. Also, the PM (probability of match) value, which is indicated the probability of genotype matching between individuals, was 2×10−23. This kit was developed and verified according to the “Validation Guidelines for DNA Analysis Methods (2012)” of SWGDAM and the criteria set by KOLAS (Korea Laboratory Accreditation Scheme). As a result, this kit was found to be very accurate and highly sensitive, and all genotypes were detected with reaction inhibitor up to 37.5 ng/μL. This is expected to be highly useful in case of individual identification and paternity test, especially, a little amount of sample.
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