Genetic Characterization of Wakhi People from Hunza Valley of Pakistan by employing Mitochondrial DNA Control Region

Marriam Jaffer, Muhammad Saqib Shahzad, Zia Ur Rahman, Azam Ali, Saeeda Kalsoom, Javed Iqbal Bajwa, Muhammad Farooq Sabar, Alamgir Alvi


Background: Study of populations at genetic level marks high importance in terms of determination of population specific patterns. The study and analysis of population specific genetic patterns have wide ranging applications from medicine to forensic science. The study of mtDNA control regions gives the insight of maternal lineages of particular ethnic group and their evolutionary as well emigrational history. 

Methods: This research gives information of mitochondrial DNA haplotypes data of CR (control region) covering the area from 16024bp to 576bp of mitochondrial DNA of Wakhi population of Hunza valley from Pakistan. Samples of 40 unrelated Wakhi from upper Hunza were sequenced and their sequences encapsulating mtDNA control region was compared to rCRSs (revised Cambridge reference sequence) to see maternally inherited DNA variation at genetic level in this population.

Keywords: Forensic Science; Control region; Haplogroup; Genetic diversity 

Keywords: Forensic Science; Control region; Haplogroup; Genetic diversity 

Results: The results showed that all forty (40) haplotypes are unique. The haplotypes corresponded to 67.9% West Eurasian haplogroups followed by the Middle East and variety of Asian haplogroups exhibiting admixed maternal genetics of this population. Wakhi population comes with high genetic diversity (0.998) in turn lowest random match probability (0.026) and high power of discrimination (0.974).

Conclusion: This study gives interesting highlights important aspect of uni-parental genetics of Wakhi population and is also a contribution to mtDNA control region data of Pakistani populations for applications in criminal investigations. 

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