STR 검사에서 관찰된 모자이시즘 사례
Investigation of mosaicism detected in STR typing
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초록
Short tandem repeats(STRs) are the most popular markers for human identification in forensics. Those markers can be easily analyzed through a multiplex PCR and electrophoresis and provide high discrimination power. In STR analysis, however, several atypical phenomena can be observed such as allelic drop-outs, drop-ins, or allelic imbalance, which may be due to DNA polymerase slippage or DNA degradation effects. Atypical STR profiles observed also can provide information for mixed DNA samples or chromosomal abnormalities. In this study, we report a case of mosaicism detected in routine casework of paternity testing. Hair samples from a phenotypically normal male were tested, and the result presented a typical STR profile of a female for the amelogenin gene (XX). In chromosome analysis using peripheral blood, it was found that 45,X/46,XY mosaicism resulted in the discrepancy between the genotype and the phenotype. In addition, the amount of Y chromosome was detected particularly low in hair compared to blood. This study shows that mosaicism can make interpretation difficult during STR analysis, and suggests that sample types and repeated analysis should be taken into consideration even for routine STR testing.
Abstract
Short tandem repeats(STRs) are the most popular markers for human identification in forensics. Those markers can be easily analyzed through a multiplex PCR and electrophoresis and provide high discrimination power. In STR analysis, however, several atypical phenomena can be observed such as allelic drop-outs, drop-ins, or allelic imbalance, which may be due to DNA polymerase slippage or DNA degradation effects. Atypical STR profiles observed also can provide information for mixed DNA samples or chromosomal abnormalities. In this study, we report a case of mosaicism detected in routine casework of paternity testing. Hair samples from a phenotypically normal male were tested, and the result presented a typical STR profile of a female for the amelogenin gene (XX). In chromosome analysis using peripheral blood, it was found that 45,X/46,XY mosaicism resulted in the discrepancy between the genotype and the phenotype. In addition, the amount of Y chromosome was detected particularly low in hair compared to blood. This study shows that mosaicism can make interpretation difficult during STR analysis, and suggests that sample types and repeated analysis should be taken into consideration even for routine STR testing.
참고문헌 (18)
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