Frequency distribution of mitochondrial DNA haplogroups within the Kalash population of Pakistan

Abstract The Kalash is an isolated population famous for their cultural and religious practices residing in the Northern areas of Pakistan. Many theories have been reported by historians about the origin of the Kalash people but very little genetic evidence been reported to date. In the current study, we investigated the mitochondrial DNA of unrelated individuals representing the Kalash population. The mitochondrial control region of 76 individuals was elucidated by high throughput Sanger sequencing. A total of 31 (23 unique) different haplotypes were observed. High genetic diversity (GD) was observed was 0.9012 and there is high discriminatory power (DP = 0.8894). The most common haplogroups among 76 individuals found were H2a2a (West Eurasian) (23.68%) followed by H4a1a and J1d3a (10.5%) each and H2a3 (9.21%). The results obtained were then compared with other world populations reported and it is concluded that the Kalash are a diverse population. This study provides an important contribution toward the establishment of a mitochondrial DNA repository of Pakistan.