title: Genetic analysis of mitochondrial DNA control region variations in four tribes of Khyber Pakhtunkhwa, Pakistan.
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.
authors.affiliation: a Department of Human Genetics and Molecular Biology , University of Health Sciences Lahore , Pakistan.|b Institute of Molecular Biology and Biotechnology, University of Lahore , Lahore , Pakistan.
authors.forename: Shahzad
authors.initials: S
authors.lastname: Bhatti
authors.affiliation: a Department of Human Genetics and Molecular Biology , University of Health Sciences Lahore , Pakistan.
authors.forename: M
authors.initials: M
authors.lastname: Aslamkhan
authors.affiliation: b Institute of Molecular Biology and Biotechnology, University of Lahore , Lahore , Pakistan.
authors.forename: Sana
authors.initials: S
authors.lastname: Abbas
authors.affiliation: c Department of Biosciences, Biotechnologies and Biopharmaceutics , University of Bari , Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Attimonelli
authors.affiliation: d Department of Medical Biochemistry , Ege University School of Medicine , Bornova Izmir , Turkey.
authors.forename: Hikmet Hakan
authors.initials: HH
authors.lastname: Aydin
authors.affiliation: e Instituto Nacional De Pesquisas Da Amazônia Av . André Araújo , Aleixo , Brazil.
authors.forename: Erica Martinha Silva
authors.initials: EMS
authors.lastname: de Souza
mesh_terms: D001210:Asia, Southeastern; D004272:DNA, Mitochondrial / Q000235:genetics*; D051456:Gene Flow; D014644:Genetic Variation; D005828:Genetics, Population / Q000379:methods*; D006239:Haplotypes; D006801:Humans; D010154:Pakistan / Q000208:ethnology; D010802:Phylogeny; D058974:Phylogeography; D044382:Population Groups / Q000235:genetics*; D025341:Principal Component Analysis; D011446:Prospective Studies
chemical_list: D004272:DNA, Mitochondrial
keywords: Control region; KPK; Pakistan; ethnicity; mtDNA haplogroups