Mitochondrial DNA variation in the Sindh population of Pakistan

The present study was undertaken to investigate the control region of mitochondrial DNA for forensic discrimination and to explore the ethno-linguistic affiliations among ethnic groups of Sindh province, Pakistan. A total of 115 individuals, from six major ethnic/isonym groups, namely, Bijarani, Chandio, Ghallu, Khoso, Nasrani and Solangi, have been studied. We identified 88 haplotypes, defined by the particular set of nucleotides; of these, 70 haplotypes were unique in the investigated population. In addition, 82% sequences were observed once, 12% twice and 5.2% thrice. The most common South Asian haplogroup in six ethnic groups of Sindh, are; M (42%) and R (6.9%), whereas West Eurasian haplogroups were N (6.9%), W (6.9%), J (1.7%), U (23.4%), H (9.5%) and T (0.86%). A random match probability between two unrelated individuals was found to be 0.06%, while genetic diversity varied from 0.991 to 0.998. The high nucleotide diversity and the low random match probability of the mtDNA control region make it a beneficial tool for forensic discrimination as well as useful to the evolutionary biologist. This work is an important contribution towards establishing a National Mitochondrial DNA Database in Pakistan. Currently, the Human Genetic department at the University of Health Sciences Lahore has the depository.