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Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs

Authors
 Yu Na Oh  ;  Hwan Young Lee  ;  Eun Young Lee  ;  Eun Hye Kim  ;  Woo Ick Yang  ;  Kyoung-Jin Shin 
Citation
 FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.15 : 64-68, 2015 
Journal Title
 FORENSIC SCIENCE INTERNATIONAL-GENETICS 
ISSN
 1872-4973 
Issue Date
2015
MeSH
Chromosomes, Human, Y* ; Fathers* ; Haplotypes* ; Humans ; Male ; Microsatellite Repeats/genetics* ; Multiplex Polymerase Chain Reaction ; Mutation* ; Republic of Korea
Keywords
AmpFℓSTR(®) Yfiler™ Plus ; Haplotype ; Korean ; Mutation rate ; PowerPlex(®) Y23 ; Y chromosome STR
Abstract
In this study, 363 Korean father-son haplotype transfers in 351 families were analyzed using an in-house multiplex PCR system for 14 Y-STRs (DYS385a/b, DYF387S1, DYS391, DYS449, DYS460, DYS481, DYS518, DYS533, DYS549, DYS570, DYS576, DYS627 and DYS643), that included 11 loci newly added to the PowerPlex Y23 system or the Yfiler Plus system. The Y-STRs showed gene diversity values ranging from 0.2499 to 0.9612; the multicopy Y-STR loci DYS385 and DYF387S1 had high gene diversity of 0.9612 and 0.9457, respectively. In addition, DYF387S1, which has two copies, showed three alleles in seven individuals, and micro-variant alleles were observed in 14 individuals at four loci (DYS448, DYS518, DYS570 and DYS627). Among 351 haplotypes for the 11 newly added Y-STRs, 350 different haplotypes were observed, with an overall haplotype diversity of 0.9999 and discrimination capacity of 99.72%. In 363 haplotype transfers from 351 pedigrees, 29 single-step mutations were observed at 11 Y-STRs. Locus-specific mutation rate estimates varied from 0.0 to 1.93×10(-2), with an average estimated mutation rate of 6.66×10(-3). Two father-son pairs had mutations at two different loci in 11 Y-STRs. The number of pairs with mutations at multiple loci increased to five when the mutation event was investigated for haplotype transfer at 28 Y-STRs including 17 Yfiler loci and 11 Y-STRs examined in this study: four father-son pairs had mutations at two loci, and one pair had mutations at three loci. Overall, mutations were frequently observed at DYS449, DYS576 and DYS627 loci, which are known to be rapidly mutating Y-STRs. Mutation rate estimates at most loci were not significantly different from rates in other populations, but estimates for DYF387S1, DYS518 and DYS570 were considerably lower in the Korean population than in other populations.
Full Text
http://www.sciencedirect.com/science/article/pii/S1872497314002130
DOI
10.1016/j.fsigen.2014.09.023
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
Kim, Eun Hye(김은혜)
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, Eun Young(이은영)
Lee, Hwan Young(이환영)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/139678
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