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Mitochondrial genetic characterization of Gujar population living in the Northwest areas of Pakistan

机译：居住在巴基斯坦西北地区古吉尔族人群的线粒体遗传特征

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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.
机译：背景：具有特定文化，种族，语言和地理背景的社区的多样性使巴基斯坦社会成为研究早期人类迁徙，具有约18个种族的人口进化史的合适研究对象。古吉尔人大多是讲印度语的游牧民，声称在该次大陆有多种起源。目前的研究旨在通过线粒体DNA分析确定古杰斯的母系。方法：采用改良的苯酚氯仿法从人颊细胞中提取总DNA。纯化的DNA用于线粒体超可变区1和2（HVR1＆2）的PCR扩增。扩增的PCR产物的核苷酸序列用于探索巴基斯坦北部古吉尔人的母系。结果：确定了巴基斯坦西北地区古吉尔族的73个无关个体的线粒体控制区单倍型，等位基因频率和种群数据。共鉴定出46种不同的单倍型，其中29种具有（0.9223）遗传多样性和（0.9097）歧视力。单倍群R是最常见的（48％），其次是单倍群M（45％）和N（7％）。结论：我们发现古吉尔族具有多个母体基因库，包括南亚，西欧亚，东欧亚，东南亚以及部分东亚，东欧和北亚谱系。这项研究将为巴基斯坦人口的线粒体DNA数据库的开发做出贡献。

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