Mitochondrial DNA variation in the Sindh population of Pakistan

Abstract

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.