Chen Chong, Li Yuchun, Tao Ruiyang, Jin Xiaoye, Guo Yuxin, Cui Wei, Chen Anqi, Yang Yue, Zhang Xingru, Zhang Jingyi, Li Chengtao, Zhu Bofeng
Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an 710004, China.
Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Ministry of Justice, Shanghai 200063, China.
Genes (Basel). 2020 Nov 14;11(11):1352. doi: 10.3390/genes11111352.
Mitochondrial DNA (mtDNA), coupled with maternal inheritance and relatively high mutation rates, provides a pivotal way for us to investigate the formation histories of populations. The Hui minority with Islamic faith is one of the most widely distributed ethnic groups in China. However, the exploration of Hui's genetic architecture from the complete mitochondrial genome perspective has not been detected yet. Therefore, in this study, we employed the complete mitochondrial genomes of 98 healthy and unrelated individuals from Northwest China, as well as 99 previously published populations containing 7274 individuals from all over the world as reference data, to comprehensively dissect the matrilineal landscape of Hui group. Our results demonstrated that Hui group exhibited closer genetic relationships with Chinese Han populations from different regions, which was largely attributable to the widespread of haplogroups D4, D5, M7, B4, and F1 in these populations. The demographic expansion of Hui group might occur during the Late Pleistocene. Finally, we also found that Hui group might have gene exchanges with Uygur, Tibetan, and Tajik groups in different degrees and retained minor genetic imprint of European-specific lineages, therefore, hinting the existence of multi-ethnic integration events in shaping the genetic landscape of Chinese Hui group.
线粒体DNA（mtDNA），结合母系遗传和相对较高的突变率，为我们研究种群的形成历史提供了关键途径。信奉伊斯兰教的回族是中国分布最广的民族之一。然而，从完整线粒体基因组角度对回族遗传结构的探索尚未开展。因此，在本研究中，我们采用了来自中国西北的98名健康且无亲缘关系个体的完整线粒体基因组，以及99个先前发表的包含来自世界各地7274个个体的群体作为参考数据，以全面剖析回族群体的母系遗传格局。我们的结果表明，回族群体与不同地区的中国汉族群体表现出更密切的遗传关系，这在很大程度上归因于单倍群D4、D5、M7、B4和F1在这些群体中的广泛分布。回族群体的人口扩张可能发生在晚更新世。最后，我们还发现回族群体可能与维吾尔族、藏族和塔吉克族群体存在不同程度的基因交流，并保留了欧洲特异性谱系的少量遗传印记，因此，暗示在塑造中国回族群体遗传格局过程中存在多民族融合事件。
