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Y-SNP miniplexes for East Asian Y-chromosomal haplogroup determination in degraded DNA

Authors
 Myung Jin Park  ;  Hwan Young Lee  ;  Na Young Kim  ;  Eun Young Lee  ;  Woo Ick Yang  ;  Kyoung-Jin Shin 
Citation
 FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.7(1) : 75-81, 2013 
Journal Title
 FORENSIC SCIENCE INTERNATIONAL-GENETICS 
ISSN
 1872-4973 
Issue Date
2013
MeSH
Asia ; Chromosomes, Human, Y* ; Genetics, Population* ; Haplotypes* ; Humans ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide
Keywords
Y chromosome haplogroup ; Single nucleotide polymorphism ; Degraded DNA ; Small size amplicon ; East Asians
Abstract
Four multiplex PCR systems followed by single base extension reactions were developed to score 22 single nucleotide polymorphisms (SNPs) and identify the most frequent East Asian Y chromosome haplogroups. Select Y chromosome SNPs allowed hierarchical testing for almost all of the major East Asian haplogroups along the revised Y chromosome tree. The first multiplex consists of six SNPs defining world-wide major haplogroups (M145, RPS4Y711, M89, M9, M214, and M175). The second multiplex includes six SNPs of subhaplogroup O (M119, P31, M95, SRY465, 47z, and M122). The third multiplex contains six SNPs that subdivide the subhaplogroup O3 (M324, P201, M159, M7, M134, and M133). The fourth multiplex comprises four SNPs of subhaplogroup C (M217, M48, M407, and P53.1). The sizes of the PCR amplicons ranged from 70 to 100 bp to facilitate their application to degraded forensic and ancient samples. Validation experiments demonstrated that the multiplexes were optimized for analysis of low template DNA and highly degraded DNA. In a test using DNA samples from 300 Korean males, 16 different Y chromosome haplogroups were identified; haplogroup O2b* was the most frequently observed (29.3%), followed by haplogroups C3 (xC3c, C3d, C3e) (16.0%) and O3a3c1 (11.0%). These multiplex sets will be useful tools for Y-chromosomal haplogroup determination in anthropological and forensic studies of East Asian populations.
Full Text
http://www.sciencedirect.com/science/article/pii/S187249731200169X
DOI
10.1016/j.fsigen.2012.06.014
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Medical Law and Bioethics (의료법윤리학과) > 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
Kim, Na Young(김나영)
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, Eun Young(이은영)
Lee, Hwan Young(이환영)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/86149
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