新疆维吾尔族人群SLC22A1基因的单核苷酸多态性研究

发布时间：2018-05-28 14:06

  本文选题：SLCA基因 + 单核苷酸多态性　； 参考：《中国医院药学杂志》2016年20期

【摘要】：目的:研究有机阳离子转运体SLC22A1基因单核苷酸多态性(SNP)rs2282143位点(P341L,1022CT)基因型和等位基因在中国新疆维吾尔族人群中的分布频率,并比较其与不同种族间的分布差异。方法:通过SNaPshot SNP分型技术检测276例新疆维吾尔族健康人群的SLC22A1基因SNP rs2282143位点的基因型,并与国际人类基因组单倍型图谱计划(HapMap)中不同国家或地区就该位点的SNP分型数据进行比较,分析基因型频率和等位基因频率间的差异。结果:在新疆维吾尔族健康人群中,SLC22A1基因rs2282143位点中CC基因型最常见,分布频率为90.9%;CT和TT基因型分布频率分别为8.4%、0.7%;最小等位基因T的分布频率为4.9%。新疆维吾尔族SLC22A1基因rs2282143位点的基因型频率和等位基因频率分布与黄种人群存在显著差异;而与高加索人群和黑人不存在显著差异,其中与约鲁巴人群的基因型频率存在显著差异,但与该人群的等位基因分布频率分布不存在显著差异。结论:新疆维吾尔族人群SLC22A1基因具有显著的基因多态性,其SNP rs2282143位点基因型和等位基因的分布频率与部分国家或地区人群存在较大差异,该差异对于有机阳离子转运体SLC22A1基因相关的疾病诊断、药物基因组学以及人类进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.
【作者单位】： 新疆医科大学药学院;新疆医科大学第一附属医院药学部;新疆医科大学第一附属医院干部病房内一科;
【基金】：国家自然科学基金项目(编号:81360510)
【分类号】：R440
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本文编号：1947012