本文選題：SLCA基因 + 單核苷酸多態(tài)性�。� 參考：《中國醫(yī)院藥學(xué)雜志》2016年20期

【摘要】：目的:研究有機陽離子轉(zhuǎn)運體SLC22A1基因單核苷酸多態(tài)性(SNP)rs2282143位點(P341L,1022CT)基因型和等位基因在中國新疆維吾爾族人群中的分布頻率,并比較其與不同種族間的分布差異。方法:通過SNaPshot SNP分型技術(shù)檢測276例新疆維吾爾族健康人群的SLC22A1基因SNP rs2282143位點的基因型,并與國際人類基因組單倍型圖譜計劃(HapMap)中不同國家或地區(qū)就該位點的SNP分型數(shù)據(jù)進行比較,分析基因型頻率和等位基因頻率間的差異。結(jié)果:在新疆維吾爾族健康人群中,SLC22A1基因rs2282143位點中CC基因型最常見,分布頻率為90.9%;CT和TT基因型分布頻率分別為8.4%、0.7%;最小等位基因T的分布頻率為4.9%。新疆維吾爾族SLC22A1基因rs2282143位點的基因型頻率和等位基因頻率分布與黃種人群存在顯著差異;而與高加索人群和黑人不存在顯著差異,其中與約魯巴人群的基因型頻率存在顯著差異,但與該人群的等位基因分布頻率分布不存在顯著差異。結(jié)論:新疆維吾爾族人群SLC22A1基因具有顯著的基因多態(tài)性,其SNP rs2282143位點基因型和等位基因的分布頻率與部分國家或地區(qū)人群存在較大差異,該差異對于有機陽離子轉(zhuǎn)運體SLC22A1基因相關(guān)的疾病診斷、藥物基因組學(xué)以及人類進化史方面的研究可能起重要作用。
[Abstract]:Objective: to study the distribution frequency of SLC22A1 gene single nucleotide polymorphism (SNPRs2282143) genotype and allele in Xinjiang Uygur population of China, and to compare their distribution with different ethnic groups. Methods: the genotypes of SLC22A1 gene SNP rs2282143 locus were detected by SNaPshot SNP typing in 276 healthy people of Xinjiang Uygur nationality. The SNP genotyping data of this locus were compared with those of different countries or regions in the International Human Genome haplotype Map (HapMap), and the differences between genotype frequency and allele frequency were analyzed. Results: CC genotype was the most common in the rs2282143 locus of the SLC22A1 gene in Xinjiang Uygur healthy population, the distribution frequency was 90.9% CT and TT genotype were 8.4% and 0.7%, respectively, and the minimum allele T was 4.9%. The genotype frequency and allele frequency distribution of rs2282143 locus of SLC22A1 gene in Xinjiang Uygur nationality were significantly different from those of yellow race, but not from Caucasian population and black population. There was significant difference in genotype frequency between Yoruba population and Yoluba population, but there was no significant difference in allele frequency distribution between Yoruba population and Yoluba population. Conclusion: SLC22A1 gene has significant polymorphism in Xinjiang Uygur population. The distribution frequency of SNP rs2282143 locus genotype and allele in Xinjiang Uygur population is different from that in some countries or regions. This difference may play an important role in the diagnosis of diseases associated with the organic cation transporter SLC22A1 gene, pharmacogenomics and human evolution history.
【作者單位】： 新疆醫(yī)科大學(xué)藥學(xué)院;新疆醫(yī)科大學(xué)第一附屬醫(yī)院藥學(xué)部;新疆醫(yī)科大學(xué)第一附屬醫(yī)院干部病房內(nèi)一科;
【基金】：國家自然科學(xué)基金項目(編號:81360510)
【分類號】：R440
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本文編號：1947012