本文選題：SLC22A2基因 + rs316019位點(diǎn)��； 參考：《新疆醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:研究新疆維吾爾族人群SLC22A2中rs316019位點(diǎn)(G808T,A270S)基因多態(tài)性分布,并比較其與不同種族間的分布差異,為進(jìn)一步研究二甲雙胍在維吾爾族人群中的遺傳藥理學(xué)提供基礎(chǔ)。方法:用SNaPshot SNP分型技術(shù)對276名健康維吾爾族男性志愿者進(jìn)行SLC22A2的rs316019位點(diǎn)基因分型測定,并與NCBI基因庫中以及相關(guān)文獻(xiàn)報(bào)道的不同種族關(guān)于該位點(diǎn)的分型數(shù)據(jù)進(jìn)行比較,分析其分布的種族差異性。結(jié)果:rs316019位點(diǎn)基因多態(tài)性符合Hardy-Weinberg平衡(P0.05),其CC、CA、AA基因型頻率分別為79.7%、18.1%、2.2%,最小等位基因A的頻率為11.2%,未見等位基因G、T的分布。其基因多態(tài)性頻率分布與漢族、非洲、歐美等人群均存在明顯差異(P0.05)。結(jié)論:新疆維吾爾族人群SLC22A2中rs316019位點(diǎn)基因多態(tài)性分布在不同人群中存在差異,這將對應(yīng)藥物遺傳藥理學(xué)與相關(guān)疾病的發(fā)生發(fā)展等的相應(yīng)差異。
[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.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R96

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