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目的研究广西正常人群中白细胞介素13(IL-13)基因rs848G/T位点和rs1295686A/G位点的多态性分布特点,并与人类基因组国际单体型图(Hap Map)公布的欧洲、北京、日本和非洲人群比较。方法采取多重单碱基延伸法(SNa Pshot)与DNA测序相结合对275例广西人群的IL-13基因的rs848G/T和rs1295686 A/G位点进行基因分型检测,并用统计学方法分析其基因型和等位基因频率在不同性别及组间分布差异。结果 rs848G/T存在GG、GT、TT三种基因型,各分布频率为38.2%、47.3%、14.5%,此位点基因型及等位基因频率在广西人群的不同性别间无显著差异。其基因型与Hap Map公布的欧洲、日本和非洲人群有显著差异。等位基因分布频率与4种人群相比,差异均有统计学意义;rs1295686A/G存在AA、AG、GG三种基因型,各分布频率为11.6%、46.2%、42.2%,此位点基因型及等位基因频率在广西人群的不同性别间无明显差异。基因型和等位基因频率与欧洲、非洲人群间存在显著差异。结论 IL-13基因rs848G/T、rs1295686A/G基因多态性在不同地区间存在不同程度差异。
Objective To investigate the polymorphism distribution of rs848G / T and rs1295686A / G of interleukin-13 (IL-13) gene in normal population of Guangxi and compare with the published data of European Hap Map , Beijing, Japan and Africa compared to the crowd. Methods The genotypes of rs848G / T and rs1295686 A / G of IL-13 gene in 275 Guangxi population were genotyped by SNa Pshot and DNA sequencing and analyzed by statistical methods Genotype and allele frequency distribution differences in different genders and groups. Results There were three genotypes of GG, GT and TT in rs848G / T. The distribution frequencies of rs848G / T were 38.2%, 47.3% and 14.5%, respectively. There was no significant difference in genotype and allele frequencies between these two genders in Guangxi. The genotype is significantly different from the European, Japanese and African populations published by Hap Map. The frequency of allele distribution was significantly different from those of the four populations. There were three genotypes AA, AG and GG in rs1295686A / G, with frequencies of 11.6%, 46.2% and 42.2%, respectively There was no significant difference in genotype and allele frequencies between different genders in Guangxi. There are significant differences in genotypes and allele frequencies between European and African populations. Conclusion The rs848G / T and rs1295686A / G polymorphisms of IL-13 gene are different in different regions.