법과학 적용을 위한 한국인 Y-STR 단상형 데이터베이스의 확장
An Expanded Korean Reference DB of Y-Chromosome STR Haplotype for Forensic Application
2
조회
0
다운로드
3
인용
0
참고문헌
키워드
초록
Y 염색체 STR을 이용하는 남성 특이적인 DNA프로필 개인식별은 범죄현장 증거물 분석에서 이용되고 있다. 그러므로 남성 상염색체 STR 결과가 없는 증거물에서 분석될 수 있는 혈통관계 마커들의 일치확률 계산은 DNA 수사에서 중요한 사항이다. 혈통관계 마커의 일치 빈도를 측정하기 위한 참고 데이터베이스로서 검증을 위해, 범죄현장 1133개의 증거물 샘플로부터 Y 염색체 STR 단상형(haplotype)을 분석하였다. 이들 단상형은 총 1133개의 DNA 샘플을 이용해서 23개의 Y 염색체 STR 유전자좌위들(DYS576, DYS389I, DYS448, DYS389II, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643, DYS393, DYS458, DYS385a/b, DYS456, and Y-GATA H4)을 분석하였다. 그 결과 null 대립유전자, duplicated 대립유전자 및 microvariant 대립유전자와 같은 중요하고 특이적인 대립유전자들이 관찰되었다. 또한 기존 보고된 자료들과 함께 대립유전자 빈도와 단상형 기초 변수들이 계산되었다. 23개의 혈통관계 마커로 구성된 한국인 Y 염색체 STR 데이터베이스는 법과학적 적용에 있어서 일치빈도 측정을 위한 유용한 참고 방법으로 활용되어질 것으로 생각된다.
Abstract
The identification of male-specific DNA profiles using Y chromosomal short tandem repeat (STR) systems is frequently performed in forensic casework. Therefore, the estimation of match probabilities for these lineage marker (No male results of autosomal STR from crime scene) is an important problem in DNA investigation. For validation as the reference database for estimating the frequency of lineage markers, we analyzed the Y chromosomal STR haplotypes from 1133 subject samples in crime scene. These haplotypes were analyzed for 23 short tandem repeat (STR) loci (DYS576, DYS389I, DYS448, DYS389II, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643, DYS393, DYS458, DYS385a/b, DYS456, and Y-GATA H4). A considerable atypical allele number of null, duplicated and microvariant alleles were revealed. The Allele frequencies and haplotype-based parameters were calculated and compared with those of previously reported data. It seems that our expanded Korean YSTR haplotypes consisted with these 23 lineage markers are useful reference method for estimation of matching frequencies in forensic practice.
참고문헌 (27)
- MA Jobling, "The Y chromosome in forensic analysis and paternity testing", Int J Legal Med, 110, pp.118~124 (1997)
- MHD Larmuseau, "Increasing phylogenetic resolution still informative for Y chromosomal studies on West-European populations", Forensic Sci Int : Genetics, 9, pp.179~185 (2014)
- 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)
- 이해용, "성범죄 증거물에서 Y-STR Genotyping을 위한 PowerPlex®Y23 Kit의 법과학적 적용 가능성 검토", 과학수사학회지, 9(3), pp.181~186 (2015), 한국과학수사학회
- J Purps, "Validation of a combined autosomal", Y-chromosomal STR approach for analyzing typical biological stains in sexual-assault cases, 2015, pp.19, 238~242
- B Sykes, "Surnames and Y Chromosome", Am J Hum Genet, 66(4), pp.417~1419 (2000)
- 김순희, "Y-STR Genetic Structure of the Most Common Surnames in Korea", Genes & Genomics, 31(3), pp.243~249 (2009), 한국유전학회
- 조남수, "한국인 성씨집단 17 Y-STR haplotypes의 법과학적 적용에 관한 연구", 한국법과학회지, 11(1), pp.24~31 (2010)
- NS Cho, "Population data on Y-chromosomal STR haplotypes in Korean of three regions", Korean J Forensic Sci, 7(1), pp.5~16 (2006)
- SH Kim, "Y chromosome homogeneity in the Korean population", Int J Legal Med, 124, pp.653~657 (2010)
- 정주연, "DNA 정보 활용을 통한 귀화인 살인사건의 분석과 적용", 과학수사학회지, 7(4), pp.253~259 (2013), 한국과학수사학회
- S Willuweit, "The new Y chromosome haplotype reference database", Forensic Sci Int : Genetics, 15, pp.43~48 (2015)
- NS Cho, "A large Korean Y-STR haplotype data and validation for reference database", Korean J Forensic Sci, 9(1), pp.20~25 (2008)
- 유승연, "Population Genetics of 23 Y-Chromosomal STR Loci in South Koreans", 과학수사학회지, 8(1), pp.16~30 (2014), 한국과학수사학회
- M Nei, "Molecular Evolutionary Genetics", pp.76~179 (1987), olumbia University Press
- JH Hwang, "Haplotypes for 12 Y-chromosomal STR loci in a Korean population (The central region)", Forensic Sci Int, 168, pp.73~84 (2007)
- KM Seong, "Population genetic polymorphisms of 17 Y-chromosomal STR loci in South Koreans", Forensic Sci Int: Genetics, 5, pp.e122~e123 (2011)
- J Purps, "A global analysis of Y-chromosomal haplotype diversity for 23 STR loci", Forensic Sci Int : Genetics, 12, pp.12~23 (2014)
- KN Ballantyne, "A new future of forensic Y-chromosome analysis: Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages", Forensic Sci Int : Genetics, 6, pp.208~218 (2012)
- 조남수, "Null and Duplicated Alleles of 17 Y-STR Haplotypes in Koreans and Considerations for Forensic Application", 대한법의학회지, 34(2), pp.147~151 (2010), 대한법의학회
- PH Vogt, "Genomic heterogeneity and instability of the AZF locus on the human Y chromosome", Mol Cell Endocrinol, 224, pp.1~9 (2004)
- YH Lee, "Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs", Int J Legal Med, 121, pp.128~135 (2007)
- TE King, "Genetic signatures of coancestry within surnames", Curr Biol, 16, pp.384~388 (2006)
- 조남수, "DYS385 유전자좌의 이상 대립유전자 분석을 이용한 연쇄성폭행범 검거 사례", 한국법과학회지, 10(2), pp.107~111 (2009)
- S Willuweit, "Y-STR frequency surveying method: A critical reappraisal", Forensic Sci Int : Genetics, 5, pp.84~90 (2011)
- MM Andersen, "Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory", Forensic Sci Int : Genetics, 7, pp.264~271 (2013)
- CJ Gershaw, "Forensic utilization of familial searches in DNA databases", Forensic Sci Int : Genetics, 5, pp.16~20 (2011)