Analysis of mutations in the Chinese Uyghur population.

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 .