Mitochondrial genetic characterization of Gujar population living in the Northwest areas of Pakistan

Inam Ullah, Habib Ahmad, Brian E Hemphill, Muhammad Shahid Nadeem, Muhammad Tariq, Sadia Tabassum


Background: Diversity of communities with specific cultural, ethnic, lingual and geographical backgrounds makes Pakistani society a suitable study subject to unravel the early human migrations, evolutionary history of population having about 18 ethnic groups. Gujars are mostly Indic-speaking nomadic herders with the claims of multiple origins in the sub-continent. Present study was aimed at the determination of maternal lineage of Gujars by mitochondrial DNA analysis.

Methods: Total DNA from the human buccal cells was isolated using modified phenol chloroform method. Purified DNA was used for the PCR amplification of mitochondrial Hyper Variable Region 1 and 2 (HVR1 & 2). The nucleotide sequences of amplified PCR products were used to explore the maternal lineage of the Gujar population residing in Northern Pakistan.

Results: Haplotypes, allele frequencies and population data of the mitochondrial control region was determined in 73 unrelated individuals belonging to Gujar ethnic group of Northwest areas of Pakistan. Total 46 diverse haplotypes were identified out of which 29 were found unique with (0.9223) genetic diversity and (0.9097) power of discrimination. Haplogroup R was the most frequent (48%) followed by haplogroup M (45%) and N (7%).

Conclusion: We found that the Gujar population has multiple maternal gene pool comprising of South Asian, West Eurasian, East Eurasian, Southeast Asian and fractions of Eastern Asian, Eastern Europe and Northern Asian lineages. This study will contribute for the development of mitochondrial DNA database for Pakistani population.

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