2019 年第 10 期 第 14 卷

新疆维吾尔族人群SLC22A2基因遗传多态性研究

SLC22A2 gene polymorphism in Xinjiang Uygur population

作者：玛依拉·艾则孜王宁赵军于晓濛贺维峰

英文作者：

单位：830054乌鲁木齐，新疆医科大学第一临床医学院在读研究生（玛依拉·艾则孜、于晓濛、贺维峰）；830054乌鲁木齐，新疆医科大学第一附属医院干部病房内一科（王宁），药学部（赵军）

英文单位：

关键词：遗传多态性；SLC22A2基因；新疆维吾尔族

英文关键词：

• 摘要：

• 【摘要】目的    以维吾尔族人群为研究对象，测定SLC22A2基因5个单核苷酸多态性（SNP）的等位基因和基因型频率分布情况，为后续个体化研究提供基础。方法    采用SNaPash SNP分型，对276名健康维吾尔族男性志愿者进行5个SLC22A2 SNP的基因型测定，并与美国国家生物技术信息中心基因库和不同种族的相关数据进行比较。结果    共检测5个SNP位点，包括rs11920090、rs316019、rs662301、rs201919874 及rs145450955，其中，检测到rs316019、rs662301、rs11920090位点有突变，其变异最小等位基因分布频率分别为11.2%（62/552）、2.4%（13/552）、9.1%（50/552），rs145450955和rs201919874位点未见突变。各位点的遗传多态性与Hardy-Weinberg平衡一致(P>0.05)。以上各突变位点基因多态性频率分布与目前相关文献中报道的各种族之间存在明显差异（P＜0.05)。结论    SLC22A2基因在新疆维吾尔族健康人群中存在rs11920090、rs316019、rs662301位点变异，上述位点突变存在明确遗传差异性，为遗传相关性差异性治疗提供可能。

• 【Abstract】Objective    To observe the genotypes and alleles of 5 single nucleotide polymorphisms（SNPs） of SLC22A2 gene in Xinjiang Uygur population. Methods    Five SLC22A2 SNPs were detected by SNaPshot technique in 276 healthy Uygur male volunteers and compared with other ethnic populations of different countries or regions from National Center for Biotechnology Information GenBank and gene data reported by previous studies. Results    Five SNPs, including rs316019, rs662301, rs11920090, rs201919874 and rs145450955 were detected. Among them, rs11920090, rs316019 and rs662301 had mutations and the frequencies of the minimum mutant allele were 11.2%（62/552）, 2.4%（13/552） and 9.1%（50/552）， respectively; rs145450955 and rs201919874 showed no mutation. Genetic polymorphism of each loci was normal with Hardy-Weinberg equilibrium(P>0.05). Distribution frequencies of mutant alleles showed significant differences when compared with those reported in different ethnic populations(P<0.05). Conclusions    SLC22A2 rs11920090, rs316019 and rs662301 mutations are found in healthy Xinjiang Uygur population. Genetic difference of these mutations may provide reference for individual treatment.