Li Haiyue, He Yongjun, Wang Li, Xing Shishi, Peng Linna, Yuan Dongya, Jin Tianbo
Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Northwest University Xi'an 710069, Shaanxi, China.
Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University Xianyang 712082, Shaanxi, China.
Am J Transl Res. 2021 Sep 15;13(9):10871-10881. eCollection 2021.
Genetic characteristics of in different populations may be helpful to explore interethnic variability in drug response and disease susceptibility. There is no information about the genetic profile of in the Chinese Uyghur population. We used PCR and first-generation sequencing technology to investigate mutations in 100 unrelated healthy Chinese Uyghurs. The chi-square test was used to compare genotyping data of in the Chinese Uyghur population with other ethnic groups. The SIFT and PolyPhen-2 online tools were used to predict the protein function of the novel nonsynonymous mutations in . CADD software was used to predict pathogenicity of the mutations. We found twenty-eight mutations in , five new mutations, three alleles ( and ), and three genotypes ( and ) in the Chinese Uyghur population. The allele frequencies of and were 96%, 3.45%, and 0.5%, respectively. Interethnic comparison found that subgenotype in Uyghur was significantly higher than in Taiwanese and African Americans, and frequency in Uyghur was slightly lower than that in Taiwanese and African Americans (<0.05); *8 was only found in Chinese Uyghur and Korean populations, with frequencies of 0.5% and 0.8%, respectively. Furthermore, the protein prediction results revealed that the five nonsynonymous mutations could influence protein structure and function. The observations of this study give rise to useful information on mutations in Chinese Uyghurs, which may support future important clinical implications for the use of medications metabolized by .
不同人群中的基因特征可能有助于探索种族间药物反应和疾病易感性的差异。目前尚无关于中国维吾尔族人群基因概况的信息。我们使用聚合酶链反应（PCR）和一代测序技术，对100名无亲缘关系的中国维吾尔族健康个体进行了[基因名称]突变的研究。采用卡方检验比较中国维吾尔族人群与其他种族群体的[基因名称]基因分型数据。使用SIFT和PolyPhen-2在线工具预测[基因名称]中新的非同义突变的蛋白质功能。使用CADD软件预测突变的致病性。我们在中国维吾尔族人群中发现了[基因名称]的28个突变、5个新突变、3个等位基因（[等位基因名称1]和[等位基因名称2]）以及3种基因型（[基因型名称1]和[基因型名称2]）。[等位基因名称1]、[等位基因名称2]和[等位基因名称3]的等位基因频率分别为96%、3.45%和0.5%。种族间比较发现，维吾尔族中的亚基因型[亚基因型名称]显著高于台湾人和非裔美国人，维吾尔族中的[等位基因名称4]频率略低于台湾人和非裔美国人（P<0.05）；*8仅在中国维吾尔族和韩国人群中发现，频率分别为0.5%和0.8%。此外，蛋白质预测结果显示，这5个非同义突变可能影响蛋白质结构和功能。本研究的观察结果为中国维吾尔族人群中[基因名称]突变提供了有用信息，这可能为未来使用由[基因名称]代谢的药物提供重要的临床意义。
