广西壮族及汉族人群干扰素γ基因遗传多态性的研究

目的研究干扰素γ（IFN-γ）基因内含子1＋874A／T多态性在广西壮族与汉族人群中的分布，同时比较不同种族间IFN-γ基因型及等位基因频率分布的差异。方法采用序列特异性引物-聚合酶链反应（PCR—SSP）技术检测140名广西壮族人和130名汉族人IFN-γ基因＋874A／T多态性，比较两组人群的基因型和等位基因的分布频率，并结合文献与其他种族研究结果进行比较。结果IFN-γ基因＋874A／T多态性分布在广西壮族与汉族人群中比较无显著性差异（P〉0．05），IFN-γ基因型以AA型最多，分别为63．6％和62．3％；等位基因以A等位基因最多，分别为76．4％和76．5％。基因型和等位基因分布频率在男女间无显著性差异；但与欧洲、美洲等其他种族人群比较，其基因型及等位基因频率的分布均有显著性差异（P〈0．05）。结论广西壮族与汉族人群中存在IFN-γ基因＋874 A／T多态性，这种基因多态性分布在广西壮族与汉族间无明显差异，与其他种族人群比较则存在显著性差异。

Study on genetic polymorphism of interferon-gamma in Guangxi Zhuang and Han populations

Objective To study gene polymorphism at position ＋ 874 A/T in intron 1 of interferon - gamma （ IFN -γ） in the Guangxi Zhuang and Han populations,and to compare the distributions of genotype and allele frequencies of IFN - γ among different races. Methods The genotype and allele frequencies of the IFN - γ gene ＋ 874 A/T polymorphism were detected by polymerase chain reaction - sequence specific primers（PCR - SSP）in 130 healthy cases of Chinese Han and 140 cases of Zhuang populations in Guangxi. Results There were no significant differences in the genotype and allele distribution of ＋ 874 A/T polymorphism of the IFN - γ gene among Han and Zhuang populations of Guangxi（P 〉 0. 05 ）. Compared with populations of Europe and America, the distribution of IFN - γ genotype and allele were significantly different among different races （P 〈 0. 05）. Conclusions In Han and Zhuang populations of Guangxi the polymorphisms exist at position ＋ 874 A/T in intron 1 of IFN - γ. There is no significant difference in the genotype and allele distribution of the IFN - γ gene among Han and Zhuang populations of Guangxi,and its distribution is significantly different among different races.