目的:分析白细胞介素27(IL-27)单核苷酸多态性(SNP)位点 rs40837的基因型和等位基因型在广西壮族人群中的分布频率,对比其在不同种族间的分布差异。方法利用 SNaPshot SNP 分型技术检测150名广西壮族 IL-27基因 SNP 位点 rs40837的基因型,对比国际人类基因组单倍型图谱计划(HapMap)上中国北京人群、日本人群、欧洲人群和非洲人群的 SNP 分型数据,分析五个人群的 IL-27基因 SNP 位点 rs40837的基因型和等位基因型频率的差异。结果广西壮族人群 IL-27基因 rs40837位点的基因型与性别无关。其基因型与欧洲人群和中国北京人群相比差异无统计学意义(P〉0.05),而与日本人群和非洲人群相比差异有统计学意义(P〈0.05)。其等位基因型频率与欧洲人群相比差异无统计学意义(P〉0.05),而与中国北京人群、日本人群和非洲人群相比则差异有统计学意义( P〈0.05)。结论 IL-27基因 SNP 位点 rs40837的基因型和等位基因型在广西壮族人群中的分布频率与其他种族人群相比可能存在差异,而且这种差异可能是导致某些疾病的发病率和临床表现在不同种族人群间存在差异的因素之一。
Objective To analyze distribution frequency of genotype and allele of interleukin-27(IL-27)single nucleo-tide polymorphism(SNP)locus rs40837 of Zhuang population in Guangxi,and to analyze distribution differences among dif-ferent races.Methods SNaPshot SNP typing technology was used to test IL-27 gene SNP locus rs40837 genotypes in 150 ca-ses of Zhuang population in Guangxi,and the above-mentioned rs40837 genotypes was compared 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 rs40837 genotype and allele frequencies among the above-mentioned five groups were analyzed.Results IL-27 gene SNP locus rs40837 genotype of Zhuang population in Guangxi was not related to gender. There was no statistically significant difference in IL-27 gene rs40837 genotype between Zhuang population,European popula-tion and Beijing population in China(P〉0.05),but there was statistically significant difference when comparing with that of Japanese and African populations(P〈0.05).Difference of allele frequency of IL-27 gene rs40837 was not statistically signifi-cant compared with that of European population(P〉0.05),but it was statistically significant compared with Beijing population in China,Japanese population and the African populations(P〈0.05).Conclusion There may be difference between IL-27 gene SNP locus rs40837 genotypes and allele distribution frequencies of Zhuang population in Guangxi and those of popula-tions in other areas,and this difference may lead to differences in the incidence and clinical manifestations of certain diseases in different regions.