Xie Tong, Hu Li, Guo Yu-Xin, Li Yu-Chun, Chen Feng, Zhu Bo-Feng
School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, People's Republic of China.
Department of Forensic Medicine, Nanjing Medical University, Nanjing, 210029, Jiangsu, China.
Mol Biol Rep. 2019 Feb;46(1):17-25. doi: 10.1007/s11033-018-4375-5. Epub 2018 Nov 17.
Genetic polymorphism analysis of 60 mitochondrial DNA (mtDNA) loci in Chinese Xinjiang Kazak group was conducted in this study. Blood samples from 141 unrelated healthy volunteers were randomly collected from Chinese Kazak ethnic group in Ili, Xinjiang Uygur Autonomous region. Among these mtDNA loci, single nucleotide transition was the most commonly observed variant (87.93%). A total of 25 haplogroups and 79 haplotypes were found in Kazak group, and Haplogroup D4 was the most common haplogroup (21.28%). Among the entire 79 haplotypes, 53 of them were observed for only once, 14 for twice. The haplotype diversity was 0.978 ± 0.005, and the nucleotide diversity was 0.17449. The detection of (CA) and 9-bp deletion polymorphisms could improve the discrimination power of the mtDNA genetic marker. Moreover, Xinjiang Kazak group was compared with other previously reported groups to infer its genetic background. The present results revealed that Xinjiang Kazak ethnic group was genetically closer related to Xinjiang Uygur, Xinjiang Uzbek and Xinjiang Han populations. Meanwhile, our results also indicated the potential closer genetic relationships among Xinjiang Kazak group with Altaian Kazak as well as Xinjiang Xibe group. In conclusion, this novel mtDNA panel could be effectively utilized for forensic applications. Additionally, to further reveal the genetic background of Chinese Kazak group, more relevant populations and genetic markers should be incorporated in our future study.
本研究对中国新疆哈萨克族群体的60个线粒体DNA（mtDNA）位点进行了基因多态性分析。从新疆维吾尔自治区伊犁哈萨克族中随机采集了141名无亲缘关系的健康志愿者的血样。在这些mtDNA位点中，单核苷酸转换是最常见的变异类型（87.93%）。哈萨克族群体共发现25个单倍群和79种单倍型，其中单倍群D4最为常见（21.28%）。在全部79种单倍型中，53种仅出现1次，14种出现2次。单倍型多样性为0.978±0.005，核苷酸多样性为0.17449。（CA）和9碱基缺失多态性的检测可提高mtDNA遗传标记的鉴别能力。此外，将新疆哈萨克族群体与其他先前报道的群体进行比较，以推断其遗传背景。目前的结果表明，新疆哈萨克族在基因上与新疆维吾尔族、新疆乌兹别克族和新疆汉族群体关系更为密切。同时，我们的结果也表明新疆哈萨克族群体与阿尔泰哈萨克族以及新疆锡伯族群体之间可能存在更密切的遗传关系。总之，这种新型的mtDNA分析方法可有效地应用于法医学领域。此外，为了进一步揭示中国哈萨克族群体的遗传背景，未来的研究应纳入更多相关群体和遗传标记。
