新疆维吾尔族人群SLC22A2中rs316019位点基因多态性分布研究

发布时间：2018-06-26 12:54

本文选题：SLC22A2基因 + rs316019位点　；参考：《新疆医科大学》2017年硕士论文

【摘要】：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,为进一步研究二甲双胍在维吾尔族人群中的遗传药理学提供基础。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(P0.05),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(P0.05)。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。
[Abstract]:Objective: to study the polymorphism distribution of rs316019 locus (G808TnA270S) in Xinjiang Uygur population (SLC22A2), and to compare the distribution difference between SLC22A2 and different ethnic groups, so as to provide a basis for further study on the genetic pharmacology of metformin in Uygur population. Methods: the genotyping of SLC22A2 rs316019 locus was performed in 276 healthy Uygur male volunteers by using SNaPshot SNP typing technique, and the genotyping data of SLC22A2 locus were compared with the genotyping data of different ethnic groups reported in the NCBI gene bank and related literature. Analyze the racial differences in their distribution. Results the gene polymorphism at the 1: rs316019 locus was consistent with Hardy-Weinberg equilibrium (P0.05). The genotype frequencies of CCCAN AA were 79.7% and 18.1%, respectively. The lowest allele A was 11.2and there was no distribution of allele GnT. The gene polymorphism frequency distribution was significantly different from that of Han people, Africa, Europe and America (P0.05). Conclusion: the distribution of rs316019 locus polymorphism in SLC22A2 in Xinjiang Uygur population is different in different populations, which will correspond to the difference of pharmacology and the occurrence and development of related diseases.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R96

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