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Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs

Authors
 Hwan Young Lee  ;  Myung Jin Park  ;  Kyoung-Jin Shin  ;  Sang-Ho Cho  ;  Woo Ick Yang  ;  Han Young Lee  ;  Ukhee Chung 
Citation
 INTERNATIONAL JOURNAL OF LEGAL MEDICINE, Vol.121(2) : 128-135, 2007 
Journal Title
 INTERNATIONAL JOURNAL OF LEGAL MEDICINE 
ISSN
 0937-9827 
Issue Date
2007
MeSH
Adult ; Asian Continental Ancestry Group/genetics* ; Chromosomes, Human, Y/genetics* ; DNA Mutational Analysis ; Fathers ; Genetic Variation ; Haplotypes/genetics* ; Humans ; Korea ; Male ; Microsatellite Repeats/genetics* ; Mutation/genetics* ; Paternity* ; Polymorphism, Single Nucleotide ; Reproducibility of Results
Keywords
Y chromosome STR ; Haplotypes ; Mutation rate ; Koreans
Abstract
We analyzed 369 Korean father/son haplotype transfers in 355 families at 22 Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS437, DYS438, DYS439, DYS446, DYS447, DYS448, DYS449, DYS456, DYS458, DYS464, DYS635, and GATA H4.1). A total of 350 haplotypes were observed with an overall haplotype diversity of 0.9999. Among these, 345 were unique and five were found twice. Furthermore, 36 mutations were identified, giving locus-specific mutation rate estimates between 0.0 and 19.0 × 10−3 per generation and an average mutation rate estimate of 3.9 × 10−3 (95% CI 2.7–5.4 × 10−3). The compilation of Y-STR mutation events for the present study and previous studies demonstrates that DYS449, DYS458, DYS635, DYS456 and DYS439 are the most prone to mutations and that their overall average mutation rate estimate is 2.36 × 10–3 (95% CI 2.03–2.73 × 10–33).
Full Text
http://link.springer.com/article/10.1007%2Fs00414-006-0130-x
DOI
10.1007/s00414-006-0130-x
Appears in Collections:
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
Park, Myung Jin(박명진)
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
Lee, Hwan Young(이환영)
Chung, Uk Hee(정욱희)
Cho, Sang Ho(조상호)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/96169
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