두 건의 성범죄 사건에서 확보한 남성 DNA의 Y 염색체 미세결실 확인 보고
The Case Report of Y Chromosome Microdeletion in Male DNA Obtained from Two Sex Criminal Cases
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전북 지역 및 광주 지역 경찰이 각각 의뢰한 성범죄 사건 감정물에서 검출된 Y 염색체 short tandem repeat (STR) 디엔에이형은 6개의 좌위(DYS385 a/b, DYS460, DYS549, DYS392, DYS448, DYF387S1 a/b) 에서 null allele로 나타났다. 이 두 성범죄 사건을 대상으로 Promega의 Y chromosome deletion detection system을 적용하여 sex determining region Y (SRY), azoospermia factor (AZF)의 a, b, c 부위 등에 존재하는 총 20개의 sY 마커의 증폭산물의 유무를 아가로즈 겔 전기영동 방법으로 관찰하였다. 이들 시료에서SRY, AZFa 부위는 증폭산물이 잘 관찰되었고, AZFc 부위의 증폭 산물은 관찰되지 않았다. AZFb 부위의경우, 대부분의 마커들이 증폭이 되지 않았고, 예외적으로 sY128, sY133 마커의 증폭산물 밴드가 관찰되었다. 위양성 여부를 파악하기 위해 sY128, sY133의 프라이머를 따로 합성하여 monoplex로 증폭을 시도하였다. 요약하면, 두 성범죄 사건 감정물의 남성 DNA의 Y 염색체내 AZFb, AZFc 부위에서 미세결실이일어나서 그 부위에 위치한 Y-STR DNA형도 검출되지 않은 것으로 판단된다.
Abstract
Six loci(DYS385 a/b, DYS460, DYS549, DYS392, DYS448, DYF387S1 a/b) of the Y chromosome appeared as null alleles in two sex crime cases requested by the Jeollabuk-do and Gwangju police. Using Promega’s Y chromosome deletion detection system, the presence or absence of amplification products of a total of 20 sY markers which were located in sex determining region Y (SRY) and in azoospermia factor (AZF) a, b, and c regions and other sites was observed by agarose gel electrophoresis. As targets for two sex crime samples, the amplification products of sY loci in the SRY and AZFa regions were well observed, but the amplification products of sY loci in the AZFc region were not. In the case of the AZFb region, most of the sY markers were not amplified. Exceptionally, the amplification product bands of sY128 and sY133 markers in the AZFb region were observed. In order to determine whether there are false positives, primer pairs of sY128 and sY133 were separately synthesized and amplification was attempted in monoplex PCR. In summary, it was thought that microdeletions occurred in the AZFb and AZFc regions in the Y chromosome of the male DNA from two sex crimes, and therefore several Y-STRs located in these regions were not detected.
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