Mitochondrial genetic characterization of Gujar population living in the Northwest areas of Pakistan
Channel: Ch Zafar Habib Gujjar
Date: 2023-01-25

Mitochondrial genetic characterization of Gujar population living in the Northwest areas of Pakistan
 Background: Diversity of communities with specific cultural, ethnic, lingual and geographical backgrounds makes Pakistani society a suitable study subject to unravel the early human migrations, evolutionary history of population having about 18 ethnic groups. Gujars are mostly Indic-speaking nomadic herders with the claims of multiple origins in the sub-continent. Present study was aimed at the determination of maternal lineage of Gujars by mitochondrial DNA analysis. Methods: Total DNA from the human buccal cells was isolated using modified phenol chloroform method. Purified DNA was used for the PCR amplification of mitochondrial Hyper Variable Region 1 and 2 (HVR1 & 2). The nucleotide sequences of amplified PCR products were used to explore the maternal lineage of the Gujar population residing in Northern Pakistan. Results: Haplotypes, allele frequencies and population data of the mitochondrial control region was determined in 73 unrelated individuals belonging to Gujar ethnic group of Northwest areas of Pakistan. Total 46 diverse haplotypes were identified out of which 29 were found unique with (0.9223) genetic diversity and (0.9097) power of discrimination. Haplogroup R was the most frequent (48%) followed by haplogroup M (45%) and N (7%). Conclusion: We found that the Gujar population has multiple maternal gene pool comprising of South Asian, West Eurasian, East Eurasian, Southeast Asian and fractions of Eastern Asian, Eastern Europe and Northern Asian lineages. This study will contribute for the development of mitochondrial DNA database for Pakistani population.

Discussion 
In the present study 73 unrelated samples from the Gujars were characterized for maternal linage and other genetic structure. The genetic structure of the present studied population was compared with the previously reported data of Pakistani ethnic groups. The haplotypic diversity of the Gujar population (GD=0.9223) observed shows a high genetic diversity in comparison with the other reported population of Pakistan except Kalash. Genetic diversity is due the reflection of unique haplotypes distribution. The numbers of unique haplotypes identified in the present studied population were 63%, which were found somehow consistent with Burusho 78%, Hazara 76%, Makrani 76%, Baluchi 69% and Brahui 68% among the other reported population of Pakistan, while moderately lower from Saraiki 92%, Sindhi 90% and Pathan 81%. Members of Gujars population revealed high frequency (42%) of South Asian lineage. The proportion of South Asian lineages in demographic events.
The West Eurasian haplogroup was the second most prevalent haplogroup accounting for (37%) in the individuals of the present study population. Its frequency among the Pathans of Pakistan was reported 55%and 26% in Makranis. Furthermore, the frequency of West Eurasian haplogroup in Indian Punjabis population were reported from (40-50%), in Kashmiris and Gujrathis 30%, while the least were observed in Indian Uttar Pradesh and West Bengal. Greater proportion of West Eurasian lineages were also reported among the major ethnic groups of Afghanistan with the frequencies of 40% in Hazara, 89% in Tajik, 74% in Baluch and 64% in Pashtun. The presence of these lineages revealed that, the gene flow in the past to this region may occur from the west through Iran or from the North through Central Asia, through the invasion by different invaders i.e. Alexander, Arabians, Muslims and the British. The mega haplogroup R, M and N identified in the Gujars population are said to be South Asian in origin and has been originated approximately 60000-75000 years ago in South Asia, suggesting their maternal gene pool as South Asian in origin.