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Mitochondrial DNA analysis of five Pathan tribes from Pakistan

By: Sadia Tabassum, Habib Ahmad, Muhammad Ilyas, Ikram Muhammad, Amanda Owings, Hongjie Lee

Key Words: mtDNA HVI, Pathans of Charsada and Mardan, Population data.

Int. J. Biosci. 8(5), 262-273, May 2016.



Substantial genetic diversity exists in Pakistani human population and understanding the evolution of this diversity is complicated due to several waves of migration from populations in the North and Northwest. Pathans are one of the largest ethnic groups of Pakistan inhabiting the vast geographical areas, specifically the northwestern part.
In the present study, we assessed the extent of genetic diversity using mtDNA sequence analysis of HVI (Hyper variable I) control region of the Pathan populations of Mardan and Charsada districts. A total of 165 buccal swabs were collected from five major populations of the two geographically adjacent districts, Charsada and Mardan. Mitochondrial control region HVI data was generated for all the samples. mtDNA haplogroups were assigned to each sample using a phylotree ( Principle Coordinate (PCoA) plot was generated by combining our data set with other published datasets from neighboring populations of central Asia, Middle East, Europe and South Asia. The most frequent mtDNA HVI macro haplogroups R (63.4%), M (26.8%) and N (8.6%) were observed among Pathan populations. Some novel mitochondrial haplogroups (mtDNA Hgs) of M and R sub-clades have also been detected that had not been observed in previous investigation of Pathans. The clustering pattern when compared on the basis of mitochondrial HVI data sets of different neighboring populations depicts less female mediated gene flow among populations. In addition, the mitochondrial genetic structure of some sub-populations may be influenced by Turkish invasion.


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