총 설: 한국인들의 Y 염색체 STR 단상형에 관련된 통계적 해석을 위한 고려사항
Considerations for Statistical Interpretation related to Koreans’ Y Chromosomal STR Haplotypes
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
법유전학 실험실에서는 소량의 남성 DNA와 다량의 여성의 DNA가 혼합되어 있거나, 혹은 세포학적으로 정자의 미검출로 인해 남성의 표준화된 상염색체 STR 프로필의 분석이 어려워서 법과학적으로 유용한 정보를 제공하지 못하는 경우에는 재조합이 거의 없는 Y 염색체 STR 분석법을 주로 사용한다. 그러나 이 방법은 사건 현장의 증거물에서 검출된 Y 염색체 STR 단상형에 대한 통계적 해석에는 어려움이 존재한다. 따라서 이전에 보고된 대규모 한국인 Y 염색체 STR 단상형 데이터가 법과학 실무에서 통계적 해석에 유용한 참고 방법인지를 재검토할 필요가 있다. 본 총설에서는 기존에 발표된 자료를 근거로 한국인집단에서의 Y 염색체 STR 단상형에 대한 통계적 유의성, 적용범위 및 향후 중요 방향 설정에 대해 논의하였다. 결론적으로 Y 염색체 STR 단상형 분석은 한국인 집단의 사건 검체에서 상염색체 STR 분석과함께 사용할 수 있는 유용한 방법이지만, 경우에 따라서 유전자좌위가 추가된 통합된 자료를 이용할 필요성이 있다. 더불어 한국과 같은 특정한 국가 상황 및 전략을 고려한 일치확률의 유용성과 계산방법을 다르게 적용해야 하고, 나아가 DNA 오염과 전이의 위험성을 최소화하기 위해 배제 데이터베이스(elimination database) 구축과 빠르게 돌연변이 하는 Y 염색체 STR (RM Y-STR)을 추가적으로 도입하여 가까운 부계혈통을 구분할 수 있는 시스템개선이 필요할 것으로 사료된다.
Abstract
Forensic genetic laboratories perform a large amount of STR analyses of the non-recombining Ychromosomal genetic markers, particularly in cases where standard autosomal STR profiling is not informative (to analyze the male part of complex DNA mixtures and no cytological sperm detection). However, the statistical interpretation on the Y-chromosomal STR haplotypes from evidences of crime scene is challenging. Due to the uni-parental inheritance mode, it fails to separate male relatives on the familial and population level, thus not allowing individual identification. An estimate of the evidential weight of a match is usually provided by a count of the occurrence in reference database of the Y-chromosomal STR haplotype under consideration. In this review, the author re-examine whether the large-scale Korean data previously reported is a useful reference method for statistical interpretation, application range, and setting of important future directions in forensic practice. In conclusion, Y-chromosomal STR haplotype analysis is a useful method that can be used together with autosomal STR analysis in case samples from Korean populations, but in some cases, it is necessary to use integrated data with loci added. In addition, the useful calculation method of matching probability must be applied differently in consideration of specific circumstances of Korea. Furthermore, to minimize the risk of DNA contamination and transfer, the elimination database construction is needed. The rapidly mutating Ychromosomal STR (RM Y-STR) genotyping must be introduced to improve the system that can be distinguish close paternal lineages
참고문헌 (44)
- MA Jobling, "The Y chromosome in forensic analysis and paternity testing", Int J Legal Med, 110, pp.118~124 (1997)
- M Prinz, "Validation and casework application of a Y chromosome specific STR multiplex", Forensic Sci Int, 120, pp.177~188 (2001)
- M Kayser, "Forensic use of Y-chromosome DNA: a general overview", Hum Genet, 136, pp.621~635 (2017)
- I Sibille, "Y-STR DNA amplification as biological evidence in sexually assaulted female victims with no cytological detection of spermatozoa", Forensic Sci Int, 125, pp.212~216 (2002)
- A Hall, "Novel Y-STR typing strategies reveal the genetic profile of the semen donor in extended interval post-coital cervicovaginal samples", Forensic Sci Int, 136, pp.58~72 (2003)
- A McDonald, "Y-STR analysis of digital and", or penile penetration cases with no detected spermatozoa, 2015, pp.15, 84~89
- C Batini, "Detecting past male-mediated expansions using the Y chromosome", Hum Genet, 136, pp.547~557 (2017)
- R Lessig, "Asian online Y-STR Haplotype Reference Database", Legal Med, 5, pp.S160~S163 (2003)
- DW Gjertson, "ISFG:Recommendations on biostatistics in paternity testing", Forensic Sci Int : Genet, 1, pp.223~231 (2007)
- S Willuweit, "The new Y Chromosome Haplotype Reference Database", Forensic Sci Int : Genet, 15, pp.43~48 (2015)
- NS Cho, "The establishment and application of a Y-STR Haplotype Reference Database in Korea", Korean J Forensic Sci, 7(2), pp.13~18 (2006)
- NS Cho, "A large Korean Y-STR haplotype data and validation for reference database", Korean J Forensic Sci, 9(1), pp.20~25 (2008)
- ZE Bowman, "Detection of offender DNA following skin-to-skin contact with a victim", Forensic Sc Int : Genet, 37, pp.252~259 (2018)
- P Ramos, "Investigating the position and level of DNA transfer to undergarments during digital sexual assault", Forensic Sci Int : Genet, 47, pp.102316~ (2020)
- J Henry, "Assessment of the Yfiler® Plus PCR amplification kit for the detection of male DNA in semen-negative sexual assault cases", Science & Justices, 59, pp.480~485 (2019)
- J Burrill, "A review of trace “Touch DNA” deposits: Variability factors and an exploration of cellular composition", Forensic Sci Int : Genet, 39, pp.8~18 (2019)
- YN Oh, "Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs", Forensic Sc Int : Genet, 15, pp.64~68 (2015)
- JY Jung, "Forensic genetic study of 29 Y-STRs in Korean population", Legal Med, 23, pp.17~20 (2016)
- MJ Park, "Forensic evaluation and haplotypes of 19 Y-chromosomal STR loci in Koreans", Forensic Sci Int, 152, pp.133~147 (2005)
- HY Lee, "Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs", Int J Legal Med, 121(2), pp.128~135 (2007)
- Y Han, "Genetic analysis of 17 Y-STR loci in Han and Korean populations from Jilin Province, Northeast China", Forensic Sci Int : Genet, 22, pp.8~10 (2016)
- F Guo, "Population genetics for 17 Y-STR loci in Korean ethnic minority from Liaoning Province, Northeast China", Forensic Sci Int : Genet, 22, pp.e9~e11 (2016)
- Y Wang, "Genetic diversity and haplotype structure of 27 Y-STR loci in a Yanbian Korean population from Jilin Province, Northeast China", Legal Med, 36, pp.110~112 (2019)
- JH Hwang, "Haplotypes for 12 Ychromosomal STR loci in a Korean population (the central region)", Forensic Sci Int, 168, pp.73~84 (2007)
- SH Kim, "Genetic polymorphisms of 16 Y chromosomal STR loci in Korean population", Forensic Sci Int : Genet, 2, pp.e9~e10 (2008)
- KM Seong, "Population genetic polymorphisms of 17 Y-chromosomal STR loci in South Koreans", Forensic Sci Int : Genet, 5, pp.e122~e123 (2011)
- 유승연, "Population Genetics of 23 Y-Chromosomal STR Loci in South Koreans", 과학수사학회지, 8(1), pp.16~30 (2014), 한국과학수사학회
- 조남수, "법과학 적용을 위한 한국인 Y-STR 단상형 데이터베이스의 확장", 과학수사학회지, 10(1), pp.48~54 (2016), 한국과학수사학회
- 조남수, "한국인 17 Y-STR 단상형의 비정형 대립유전자 관찰", 한국법과학회지, 17(1), pp.61~65 (2016)
- HC park, "Genetic variation for three Y-STR loci: DYS390, DYS518, and DYS643", Int J Legal Med, 133(4), pp.1007~1013 (2019)
- EY Lee, "A multiplex PCR system for 13RM Y-STRs with separate amplification of two different repeat motif structures in DYF403S1a", Forensic Sci Int : Genet, 26, pp.85~90 (2017)
- L Roewer, "DNA commission of the International Society of Forensic Genetics (ISFG):Recommendations on the interpretation of Y-STR results in forensic analysis", Forensic Sci Int : Genet, 48, pp.102308~ (2020)
- MM Andersen, "The discrete Laplace exponential family and estimation of Y-STR haplotype frequencies", J Theoret Bio, 329, pp.39~51 (2013)
- GB Barra, "Fetal male lineage determination by analysis of Ychromosome STR haplotype in maternal plasma", Forensic Sci Int : Genet, 15, pp.105~110 (2015)
- G Mršić, "Croatian national reference Y-STR haplotype database", Mol Biol Rep, 39(7), pp.7727~7741 (2012)
- F Neuhuber, "The efficiency of Y-chromosome markers in forensic trace analysis and their inclusion in the Austrian National DNA Database", Forensic Sci Int : Genet Suppl Ser, 4, pp.e172~e173 (2013)
- Y Zhou, "The validation study of a novel assay with 30 slow and moderate mutation YSTR markers for criminal investigation and database applications", Int J Legal Med, 134(2), pp.491~499 (2020)
- D Syndercombe Court, "Forensic genealogy:Some serious concerns", Forensic Sci Int Genet, 36, pp.203~204 (2018)
- D Kennett, "Using genetic genealogy databases in missing persons cases and to develop suspect leads in violent crimes", Forensic Sci Int, 301, pp.107~117 (2019)
- M Lapointe, "Leading-edge forensic DNA analyses and the necessity of including crime scene investigators, police officers and technicians in a DNA elimination database", Forensic Sci Int : Genet, 19, pp.50~55 (2015)
- I Pickrahn, "Contamination incidents in the pre-analytical phase of forensic DNA analysis in Austria—Statistics of 17years", Forensic Sci Int : Genet, 31, pp.12~18 (2017)
- D Taylor, "Observations of DNA transfer within an operational Forensic Biology Laboratory", Forensic Sci Int : Genet, 23, pp.33~49 (2016)
- KN Ballantyne, "A new future of forensic Ychromosome analysis: Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages", Forensic Sci Int : Genet, 6, pp.208~218 (2012)
- A Caliebe, "Match probabilities for Y-chromosomal profiles: A paradigm shift", Forensic Sci Int : Genet, 37, pp.200~203 (2018)