Mitochondrial DNA control region variants analysis in Balti population of Gilgit-Baltistan, Pakistan

The maternal mode of inheritance of Mitochondrial DNA (mtDNA) has helped in unraveling numerous historical enigmas and has also helped in determining genetic ancestry of many populations. Balti population resides in northern Pakistan and shares physical features with Tibetans and Chinese. Their history literature also indicates the colonization of northern Pakistan by Chinese and Tibetans in 7th century. In this study, the mtDNA control region of Balti individuals were examined which revealed the distribution of total 32 haplogroups, among them West Eurasian and East Asian haplogroups predominated. Further, the data comparison with revise Cambridge Reference Sequences (rCRS) revealed 92 polymorphic sites along with 43 haplotypes, in which 37 were unique and 6 were shared. Haplogroup distribution and its frequency were suggestive of admixture of Tibetans and Chinese genetic content in Balti population. Balti population showed high genetic diversity (0.9939) and lower random match probability (0.025). The population data of this study exhibits not only the effectiveness of mtDNA analysis in forensic casework but also reveals the importance of establishing the mtDNA control region based database in Pakistan.