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Farah Ahmad
Muhammad Afzal
Muhammad Saqib Shahzad


Mitochondrial DNA, Arain, hyplogroup, ethnic group, maternal lineages


Numerous studies have demonstrated that by examining people's genetic makeup, one can learn about the past movements of communities. Due to its significant evolutionary value, mitochondrial DNA is a suitable tool for determining human migration, geographic distribution, and population origin.. A given ethnic group's maternal lineages, as well as its evolutionary and emigrational histories, can be gleaned from the examination of mtDNA control regions. 100 samples were collected (83 samples showed results) and sequenced the entire mtDNA control region of 83 unrelated individuals in Pakistan from different areas of Pakistan. The samples were compared with the revised Cambridge reference sequences.  83 dictinct haplotypes were observed, all of them were unique, and none of them were shared by any individuals. The Arain population's mtDNA diversity was 0.9916, and its power of discrimination was 0.9917. The results showed a strongly admixture mtDNA pool consisting of Indian sub-continent R5a(R5a2) 7%, South Asia M30g(M30g) 5%, Eurasian, South Asian U2b(U2b) 5%, Central and Northeast Europe T1a(T1a1'3) 4.8%, South Asian hyplogroups include U2b(U2b2) 3.0% M34a(M34a1) 2.0% M18(M18'38) 2.0%. The R5a(R5a2) Haplogroups were discovered to clearly dominate other haplogroups. It implies that the different geographic location of the Arain population may be due to the heterogeneous haplogroup makeup of their mitochondrial DNA. It has highlighted mtDNA based genetic characterization of the population, the diversity and evolutionary aspects. The outcome of study is beneficial for medical applications and for human identification. The information is also a contribution to Pakistani population's national mtDNA data, which will be useful in criminal investigations.

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1. Stanley A. Wolpert 2000. A new History of India. Oxford University Press, New York.
2. Qamar, R., Ayub, Q., Mohyuddin, A., Helgason, A., Mazhar, K., Mansoor, A., ... & Mehdi, S. Q. (2002). Y-chromosomal DNA variation in Pakistan. The American Journal of Human Genetics, 70(5), 1107-1124.
3. Rozen, S., & Skaletsky, H. (1999). Primer3 on the WWW for general users and for biologist programmers. Bioinformatics methods and protocols, 365-386.
4. Ayub, Q., & Tyler-Smith, C. (2009). Genetic variation in South Asia: assessing the influences of geography, language and ethnicity for understanding history and disease risk. Briefings in Functional Genomics and Proteomics, 8(5), 395-404.
5. Sutherland, W. J. (2003). Parallel extinction risk and global distribution of languages and species. Nature, 423(6937), 276-279.
6. Nesheva D. Aspects of ancient mitochondrial DNA analysis in different populations for understanding human evolution. science, (2014); 1(5): 5-14.
7. Van Oven M, Kayser M. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Human mutation, (2009); 30(2): E386-E394.
8. The strongest argument in favour of this claim is that Arains are always Muslims and almost entirely Sunnis as were the early Arabs who came with Muhammad bin Qasim.", There is many a slip betwixt cup and lip, Ishtiaq Ahmed, Daily Times, Pakistan, 18/04/2006.
9. at
10. "On the other hand, agricultural castes of Jats, Gujjars and Rajputs are divided into Muslims, Hindus and Sikhs.", There is many a slip betwixt cup and lip, Ishtiaq Ahmed, Daily Times, Pakistan, 18/04/2006.
11. The Arab-origin claim can be simply a re-orientation towards a (perceived) greater status as conquerors and “original” Muslims.", There is many a slip betwixt cup and lip, Ishtiaq Ahmed, Daily Times, Pakistan, 18/04/2006.
12. In our study we found blood group B is the most frequent blood group in Arain (40.5%), and blood group O is less common (24.7%) while it is the most frequent blood group among Awans, Rajputs, miscellaneous Punjabi sub casts, Balochs, Sindhis, and Pathans..." (
13. There is no statistically significant difference of ABO and Rh-D distribution among various ethnic groups and casts, O is the most common blood group except in Arains where B is the most common and O is less common."
14. Anderson, S., A. T. Bankier, B. G. Barrell, M. H. L. De Bruijn, A. R. Coulson, and J. Drouin. 1981. Sequence and organization of the human mitochondrial genome. Nature. 290:457-465.
15. Andrew, R. M., I. Kubacka, P. F. Chinnery, R. N. Lightowlers, D. M. Turnbull, N. Howell. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999; 23:147.
16. Fisher, M. C., & Garner, T. W. (2020). Chytrid fungi and global amphibian declines. Nature Reviews Microbiology, 18(6), 332-343.
17. Nesheva, D. V. (2014). Aspects of ancient mitochondrial DNA analysis in different populations for understanding human evolution. Balkan journal of medical genetics, 17(1), 5-14.
18. Metspalu, M., Kivisild, T., Metspalu, E., Parik, J., Hudjashov, G., Kaldma, K., ... & Villems, R. (2004). Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC genetics, 5(1), 1-25.
19. Whale, J. W. (2012). Mitochondrial DNA analysis of four ethnic groups of Afghanistan (Doctoral dissertation, University of Portsmouth).
20. Ayub, Q., M. Massimo, L. Pagani, M. Haber, A. Mohyuddin and K. Shagufta. 2015. The Kalash genetic isolate: ancient divergence, drift, and selection. Am. J. Hum. Genet. 96(5):775-783.
21. Akbar, N., Ahmad, H., Nadeem, M. S., Ali, N., & Saadiq, M. (2015). An efficient procedure for DNA isolation and profiling of the hyper variable MtDNA sequences. Journal of Life Sciences, 9, 530-534.
22. Rakha, A., K. J. Shin, J. A. Yoon, N. Y. Kim, M. H. Siddique and I. S. Yang. 2011. Forensic and genetic characterization of mtDNA from Pathans of Pakistan. Int. J. Leg. Med. 125(6):841-848.
23. Siddiqi, M. H., T. Akhtar, A. Rakha, G. Abbas, A. Ali and N. Haider. 2015. Genetic characterization of the Makrani people of Pakistan from mitochondrial DNA control-region data. Leg. Med. 17(2):134-139.
24. Hayat, S., T. Akhtar, M. H. Siddiqi, A. Rakha, N. Haider and M. Tayyab. 2015. Mitochondrial DNA control region sequences study in Saraiki population from Pakistan. Legal Medicine. 17(2): 140-144.
25. Ullah, I., H. Ahmad, B. E. Hemphill, M. S. Nadeem, M. Tariq and S. Tabassum. 2017. Mitochondrial genetic characterization of Gujar population living in the Northwest areas of Pakistan. Advancements Lif. Sci. 4(3): 84-91.
26. Ayala, I., Sounier, R., Usé, N., Gans, P., & Boisbouvier, J. (2009). An efficient protocol for the complete incorporation of methyl-protonated alanine in perdeuterated protein. Journal of biomolecular NMR, 43, 111-119.
27. Yang, In Seok, Lee, Hwan Young, Yang, Woo Ick, & Shin, Kyoung‐Jin. (2013). mtDNAprofiler: a Web application for the nomenclature and comparison of human mitochondrial DNA sequences. Journal of forensic sciences, 58(4), 972-980.