Forensic and genetic characterization of mtDNA from Pathans of Pakistan |
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Authors: | Allah Rakha Kyoung-Jin Shin Jung Ah Yoon Na Young Kim Muhammad Hassan Siddique In Seok Yang Woo Ick Yang Hwan Young Lee |
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Institution: | (1) Department of Forensic Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-Gu, 120-752 Seoul, South Korea;(2) Human Identification Research Center, Yonsei University, 250 Seongsanno, Seodaemun-Gu, 120-752 Seoul, South Korea;(3) Department of Zoology, University of the Punjab, Lahore, Pakistan;(4) Present address: National Forensic Science Agency, National Police Bureau, Islamabad, Pakistan; |
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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. |
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