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Understanding the Y chromosome variation in Korea--relevance of combined haplogroup and haplotype analyses.

Authors
 Myung Jin Park  ;  Hwan Young Lee  ;  Woo Ick Yang  ;  Kyoung-Jin Shin 
Citation
 INTERNATIONAL JOURNAL OF LEGAL MEDICINE, Vol.126(4) : 589-599, 2012 
Journal Title
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
ISSN
 0937-9827 
Issue Date
2012
MeSH
Asian Continental Ancestry Group/genetics ; Chromosomes, Human, Y* ; Genetic Markers ; Haplotypes* ; Humans ; Male ; Microsatellite Repeats* ; Phylogeny ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide* ; Republic of Korea
Keywords
Y chromosome ; Haplogroup ; Single nucleotide polymorphism ; Short tandem repeat ; Atypical allele ; Korean
Abstract
We performed a molecular characterization of Korean Y-chromosomal haplogroups using a combination of Y-chromosomal single nucleotide polymorphisms (Y-SNPs) and Y-chromosomal short tandem repeats (Y-STRs). In a test using DNA samples from 706 Korean males, a total of 19 different haplogroups were identified by 26 Y-SNPs including the newly redefined markers (PK4, KL2, and P164) in haplogroup O. When genotyping the SNPs, phylogenetic nonequivalence was found between SNPs M117 and M133, which define haplogroup O3a3c1 (O3a2c1a according to the updated tree of haplogroup O by Yan et al. (European Journal of Human Genetics 19:1013-1015, 2011)), suggesting that the position of the M133 marker should be corrected. We have shown that the haplotypes consisted of DYS392, DYS393, DYS437, DYS438, DYS448, and DYS388 loci, which exhibit a relatively lower mutation rate, can preserve phylogenetic information and hence can be used to roughly distinguish Y-chromosome haplogroups, whereas more rapidly mutating Y-STRs such as DYS449 and DYS458 are useful for differentiating male lineages. However, at the relatively rapidly mutating DYS447, DYS449, DYS458, and DYS464 loci, unusually short alleles and intermediate alleles with common sequence structures are informative for elucidating the substructure within the context of a particular haplogroup. In addition, some deletion mutations in the DYS385 flanking region and the null allele at DYS448 were associated with a single haplogroup background. These high-resolution haplogroup and haplotype data will improve our understanding of regional Y-chromosome variation or recent migration routes and will also help to infer haplogroup background or common ancestry.
Full Text
http://link.springer.com/article/10.1007%2Fs00414-012-0703-9
DOI
22569803
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)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/90486
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