新疆维吾尔族人群SLC22A2中rs316019位点基因多态性分布研究

目的:研究新疆维吾尔族人群SLC22A2中rs316019位点(G808T,A270S)基因多态性分布，并比较其与不同种族间的分布差异。方法:用SNaPshot SNP分型技术对276名健康维吾尔族男性志愿者进行SLC22A2的rs316019位点基因分型测定，并与NCBI基因库中以及相关文献报道的不同种族关于该位点的分型数据进行比较，分析其分布的种族差异性。结果:rs316019位点基因多态性符合Hardy-Weinberg平衡(P>0.05)，其CC、CA、AA基因型频率分别为79.7%、18.1%、2.2%，最小等位基因A的频率为11.2%，未见等位基因G、T的分布。其基因多态性频率分布与汉族、非洲、欧美等人群均存在明显差异（P＜0.05)。结论:新疆维吾尔族人群SLC22A2中rs316019位点基因多态性分布在不同人群中存在差异，这将对应药物遗传药理学与相关疾病的发生发展等的相应差异。

Polymorphism distribution of rs316019 of SLC22A2 in the Uygur population of Xinjiang

AIM: To study the polymorphism distribution of SLC22A2 gene rs316019 loci in Uygur of Xinjiang, and to analyze the racial differences in different populations. METHODS: The genotypes of rs316019 loci(G808T,A270S)in 276 unrelated healthy Uygur male were detected by the techniques of SNaP shot, and the genotype and allele frequency were subsequently compared with different populations, and analyzed the racial differences in their distribution. RESULTS:The genotypes distribution of rs316019 loci was in the Hardy-Weinberg equilibrium (P>0.05). The frequencies of genotypes (CC, CA, and AA) were 79.7%,18.1% and 2.2% in Xinjiang Uygur, the frequency of minor allele A was 11.2%, the allele G or T were not observed. It's polymorphism distribution showed significant differences between Xinjiang Uygur and the Han, the African, the American and European populations etc. (P＜0.05). CONCLUSION: There was national difference in polymorphism of SLC22A2 rs316019 loci among different populations, and it may bring the difference to drugs' pharmacogenetics and related diseases' development etc. accordingly.