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Forensic and genetic characterization of mtDNA from Pathans of Pakistan

Authors
 Allah Rakha  ;  Kyoung-Jin Shin  ;  Jung Ah Yoon  ;  Na Young Kim  ;  Muhammad Hassan Siddique  ;  In Seok Yang  ;  Woo Ick Yang  ;  Hwan Young Lee 
Citation
 INTERNATIONAL JOURNAL OF LEGAL MEDICINE, Vol.125(6) : 841-848, 2011 
Journal Title
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
ISSN
 0937-9827 
Issue Date
2011
MeSH
DNA, Mitochondrial/analysis* ; Ethnic Groups/genetics* ; ForensicGenetics ; Genetics, Population* ; Haplotypes ; Humans ; Male ; Pakistan/ethnology ; Polymorphism, Single Nucleotide
Keywords
Mitochondrial DNA ; Control region ; Haplogroup ; Pakistan ; Pathan
Abstract
Complete mitochondrial control region data were generated for 230 unrelated Pathans from North West Frontier Province and Federally Administered Tribal Areas of Pakistan. To confirm data quality and to explore the genetic structure of Pathans, mitochondrial DNA haplogroup affiliation was determined by shared haplogroup-specific polymorphisms in the control region and by the analysis of diagnostic coding region single-nucleotide polymorphisms using a multiplex system for the assignment of eight haplogroups: M, N1'5, W, R, R0, T, J, and U. Sequence comparison revealed that 193 haplotypes were defined by 215 variable sites when major insertions were ignored at nucleotide positions 16193, 309, and 573. From a phylogenetic perspective, Pathans have a heterogeneous origin, displaying a high percentage of West Eurasian haplogroups followed by haplogroups native to South Asia and a small fraction from East Asian lineages. In population comparisons, this ethnic group differed significantly from several other ethnic groups from Pakistan and surrounding countries. These results suggest that frequency estimates for mtDNA haplotypes should be determined for endogamous ethnic groups individually instead of pooling data for these subpopulations into a single dataset for the Pakistani population. Data presented here may contribute to the accuracy of forensic mtDNA comparisons in the Pathans of Pakistan.
Full Text
http://link.springer.com/article/10.1007%2Fs00414-010-0540-7
DOI
10.1007/s00414-010-0540-7
Appears in Collections:
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
Kim, Na Young(김나영)
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
Allah, Rakha(알라락하)
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
Yoon, Jung Ah(윤정아)
Lee, Hwan Young(이환영)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/94249
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