中文摘要：

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,1022C〉T）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。

英文摘要：

OBJECTIVE To study distribution of allele and genotype frequencies of organic cation transporter SLC22A1 gene rs2282143（P341L,1022CT）with single nucleotide polymorphism（SNP）in Chinese Xinjiang Uygur nationality,and compare distribution of SLC22A1 gene polymorphism among different races.METHODS The genotype and allele frequencies of SLC22A1 gene SNP loci,rs2282143 polymorphism were analyzed in Chinese Xinjiang Uygur nationality by SNaPshot SNP genotyping technique and compared with SNP data at this site in different countries and regions from Human Genome Project group（Hapmap）SNP data.RESULTS The most common genotype of SLC22A1 gene rs2282143 in Chinese Xinjiang Uygur nationality was CC（90.9%）,followed by8.4% CT and0.7% TT.Frequency of T minor allele was 4.9%.Genotype and allele frequencies of SLC22A1 gene rs2282143 polymorphism were significantly different from those for Mongolian in HapMap,but not compared with Caucasian and melanoderm.However,compared to Yoruba,genotype rather than allele frequency was significantly different.CONCLUSION Chinese Xinjiang Uygur nationality shows significant gene polymorphism,and the distribution of polymorphism is significantly different from those in some countries and region,which can play an important role in studies on disease diagnosis,pharmacogenomics and evolution of human beings.