目的:分析广西壮族人群中白细胞介素27(IL-27)单核苷酸多态性(SNP)位点 rs4740和 rs181206的各基因型及等位基因型的分布频率,并对不同种族间的分布差异进行分析。方法利用 SNaPshot SNP 分型技术检测150名广西壮族人 IL-27基因 SNP 位点 rs4740和 rs181206的基因型,与国际人类基因组单倍型图谱计划(HapMap)上的四个人群(欧洲、非洲、日本和中国北京人群)的 SNP 分型数据做对比,分析 IL-27基因 SNP 位点 rs4740和 rs181206的基因型及等位基因频率在以上五个人群之间的差异。结果在广西壮族人群中可发现白介素基因 rs4740和rs181206存在多态性,广西壮族人群白介素基因 rs4740位点的基因型和等位基因频率与非洲人群、日本人群的差异有统计学意义(P〈0.05),而与欧洲人群、中国北京人群的差异无统计学意义(P〉0.05);广西壮族人群白介素基因rs181206位点的基因型和等位基因频率与欧洲人群、非洲人群、日本人群以及中国北京人群的差异均有统计学意义(P〈0.05)。结论广西壮族人群中白介素 SNP 位点 rs4740和 rs181206基因型及等位基因型的分布频率与其他地区人群相比存在差异,这种差异可能导致某些疾病在不同地区间的发病率和临床表现存在差异。
Objective To analyze distribution frequency of genotype and allele of interleukin-27(IL-27)single nucleo-tide polymorphism(SNP)locus rs4740 and rs181206 of Zhuang population in Guangxi,and to analyze distribution differ-ences among different races.Methods SNaPshot SNP typing technology was used to test IL-27 gene SNP locus rs4740 and rs181206 genotypes in 150 cases of Zhuang population in Guangxi,and comparing the above-mentioned rs4740 and rs181206 genotypes to SNP typing data from four populations(Europe,Africa,Japan,and Beijing)on the international human genome haplotype map(HapMap).And then,differences between IL-27 gene SNP locus rs4740 and rs181206 genotypes and allele fre-quencies among the above-mentioned five groups were analyzed.Results Polymorphism of interleukin gene rs4740 and rs181206 was found in Zhuang population in Guangxi.Difference of genotype and allele frequency of rs4740 locus in Zhuang population in Guangxi and those of African population and Japanese population was statistically significant(P〈0.05),but difference of those of European population and Beijing population was not statistically significant(P〉0.05).However,differ-ences of genotype and allele frequency of rs181206 locus in Zhuang population in Guangxi and those of European population, African population,Japanese population and Beijing population were all statistically significant(P〈0.05).Conclusion There is difference between SNP locus rs4740 and rs181206 genotypes and allele distribution frequencies of Zhuang population in Guangxi and those of population in other areas,this difference may lead to differences in the incidence and clinical manifesta-tions of certain diseases in different regions.