白细胞介素-13基因错义突变rs20541C/T多态性在广西人群中的分布

Distribution of missense mutation rs20541C/T polymorphism of interleukin-13 gene in Guangxi population

目的:分析IL-13基因rs20541C/T位点多态性在广西人群中的分布特点,同时比较其在不同种群之间的分布差异。方法:采用多重单碱基延伸技术(SNa Pshot)和DNA直接测序法对275例广西人群IL-13基因rs20541C/T进行分型,并分析其基因型及等位基因的分布频率。检测结果与NCBI中人类基因组国际单体图(Hap Map)公布的其他种群(欧洲人、北京人、日本人、非洲人)和文献报道的天津人的基因型及等位基因数据进行比较。结果:IL-13基因rs20541C/T在广西人群中具有多态性,CC、CT和TT基因型频率分别为40.0%、46.2%、13.8%,C和T等位基因频率分别为63.1%、36.9%。其基因型及等位基因的分布频率在男女性别之间差异无统计学意义(P>0.05),其基因型与欧洲、非洲、天津人群作比较,差异有统计学意义(P<0.05),等位基因分布频率与这5种人群相比,差异有统计学意义(P<0.05)。结论:IL-13基因rs20541C/T基因多态性在不同种族和地区间存在着不同程度差异。

Objective：To analyze the distribution characteristics of IL-13 gene rs20541 C/T site polymorphism in Guangxi population and compare the distribution differences among different populations.Methods：IL-13 genotypes were examined by using SNa Pshot technique and DNA sequencing in 275 Guangxi people and analyzed the distribution frequencies of allele and genotype in this site.The result compared with the allele and genotype of other populations（Europeans,Beijingers,Japanses and Africans）.Results：The polymorphism of rs20541 C/T of IL-13 gene in Guangxi population existed.The genotype frequencies of CC,CT and TT were40.0%,46.2% and 13.8% respectively.The frequencies of C and T allele were found to be 63.1% and 36.9%.The polymorphism had no significant difference between male and female（P0.05）.Compared rs20541 C/T of IL-13 gene with those of Hap Map-CEU,Hap Map-YRI and Tianjin people,the distribution frequency of genotypes was significantly different（P0.05）.In this site,there were significant differences of allele frequency when compared with the other five populations（P0.05）.Conclusion：There are different degrees of diversity of rs20541 C/T polymorphism of IL-13 gene among different races and regions.