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상염색체 STR 유전자형 시뮬레이션을 이용한 한국인에서의 혈연지수 분포 분석

Other Titles
 Analysis of Kinship Index Distributions in Koreans Using Simulated Autosomal STR Profiles 
 양인석  ;  이환영  ;  박수정  ;  양우익  ;  신경진 
 Korean Journal of Legal Medicine (대한법의학회지), Vol.37(2) : 57-65, 2013 
Journal Title
Korean Journal of Legal Medicine(대한법의학회지)
Issue Date
STR ; Kinship index ; Simulation ; Familial searching ; Koreans
Kinship testing in forensic casework is largely based on a likelihood ratio (LR) approach with short tandem repeat (STR) markers; however, in order to efficiently identify potential relatives in a specific population, the threshold values for kinship prediction should be determined by analyzing the kinship index distributions of the population in question. In this study, 250,000 DNA profiles were simulated using allele frequencies at 20 autosomal STR loci in Koreans, then the LRs were calculated for true close relatives and unrelated pairs. The LR distributions in related and unrelated pairs under a given relationship were compared in 2 sets of 13 Combined DNA Index System (CODIS) and 20 STR profiles. Using 13 CODIS STRs, true relatives in parent/child and full-sibling relationships were sufficiently discriminated from unrelated pairs with LR thresholds of 1,000 and 100, respectively. However, the CODIS STRs lacked the discriminatory power to differentiate between related and unrelated pairs in uncle/nephew and first cousin relationships due to high false-positive and false-negative rates with a LR threshold of 10. Increasing the number of STR loci to 20 increased discrimination of close relatives, but high false results remained in uncle/nephew and first cousin relationships. The kinship index data from this study will help make decisions on various kinship testing and familial searching in Koreans.
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1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
Yang, Woo Ick(양우익) ORCID logo https://orcid.org/0000-0002-6084-5019
Yang, In Seok(양인석) ORCID logo https://orcid.org/0000-0001-5224-2587
Lee, Hwan Young(이환영)
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