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Title: Genetic analysis of mitochondrial DNA control region variations in four tribes of Khyber Pakhtunkhwa, Pakistan
Authors: Bhatti, Shahzad
Aslam Khan, Muhammad
Abbas, Sana
Attimonelli, Marcella
Aydin, Hikmet Hakan
Souza, Érica Martinha Silva de
Keywords: Dna, Mitochondrial
Dna, Mitochondrial
Dna Sequence
Gene Frequency
Genetic Heterogeneity
Genetic Variability
Mitochondrial Haplogroup
Neighbor Joining Method
Normal Human
Polymerase Chain Reaction
Priority Journal
Prospective Study
Regulator Gene
Gene Flow
Genetic Variation
Genetics, Population
Population Group
Principal Component Analysis
Southeast Asia
Asia, Southeastern
Dna, Mitochondrial
Gene Flow
Genetic Variation
Genetics, Population
Population Groups
Principal Component Analysis
Prospective Studies
Issue Date: 2017
metadata.dc.publisher.journal: Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis
metadata.dc.relation.ispartof: Volume 28, Número 5, Pags. 687-697
Abstract: Due to its geo strategic position at the crossroad of Asia, Pakistan has gained crucial importance of playing its pivotal role in subsequent human migratory events, both prehistoric and historic. This human movement became possible through an ancient overland network of trails called “The Silk Route” linking Asia Minor, Middle East China, Central Asia and Southeast Asia. This study was conducted to analyze complete mitochondrial control region samples of 100 individuals of four major Pashtun tribes namely, Bangash, Khattak, Mahsuds and Orakzai in the province of Khyber Pakhtunkhwa, Pakistan. All Pashtun tribes revealed high genetic diversity which is comparable to the other Central Asian, Southeast Asian and European populations. The configuration of genetic variation and heterogeneity further unveiled through Multidimensional Scaling, Principal Component Analysis and phylogenetic analysis. The results revealed that Pashtun are the composite mosaic of West Eurasian ancestry of numerous geographic origin. They received substantial gene flow during different invasive movements and have a high element of the Western provenance. The most common haplogroups reported in this study are: South Asian haplogroups M (28%) and R (8%); whereas, West Asians haplogroups are present, albeit in high frequencies (67%) and widespread over all; HV (15%), U (17%), H (9%), J (8%), K (8%), W (4%), N (3%) and T (3%). Moreover, we linked the unexplored genetic connection between Ashkenazi Jews and Pashtun. The presence of specific haplotypes J1b (4%) and K1a1b1a (5%) pointed to a genetic connection of Jewish conglomeration in Khattak tribe. This was a result of an ancient genetic influx in the early Neolithic period that led to the formation of a diverse genetic substratum in present day Pashtun. © 2016 Informa UK Limited, trading as Taylor & Francis Group.
metadata.dc.identifier.doi: 10.3109/24701394.2016.1174222
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