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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.11
- 수록면
- 150 - 155 (6page)
- DOI
- https://doi.org/10.7580/kjlm.2021.45.4.150
이용수
초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (18)
참고문헌 신청
Timken MD / 2014 / Stochastic sampling effects in STR typing : Implications for analysis and interpretation / Forensic Sci Int Genet 11:195~204
Honda K / 2001 / DNA testing of Klinefelter's syndrome in a criminal case using XY chromosomal STR multiplex-PCR / J Forensic Sci 46:1235~1238
Liou JD / 2004 / Human chromosome 21-specific DNA markers are useful in prenatal detection of Down syndrome / Ann Clin Lab Sci 34:319~323
Young DR / 2001 / Identifying sex chromosome abnormalities in forensic DNA testing using amelogenin and sex chromosome short tandem repeats / J Forensic Sci 46:346~348
Roffey PE / 2000 / A rare mutation in the amelogenin gene and its potential investigative ramifications / J Forensic Sci 45:1016~1019
Honda K / 2001 / DNA testing of Klinefelter's syndrome in a criminal case using XY chromosomal STR multiplex-PCR / J Forensic Sci 46:1235~1238
Liou JD / 2004 / Human chromosome 21-specific DNA markers are useful in prenatal detection of Down syndrome / Ann Clin Lab Sci 34:319~323
Young DR / 2001 / Identifying sex chromosome abnormalities in forensic DNA testing using amelogenin and sex chromosome short tandem repeats / J Forensic Sci 46:346~348
Roffey PE / 2000 / A rare mutation in the amelogenin gene and its potential investigative ramifications / J Forensic Sci 45:1016~1019
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