肿瘤坏死因子的基因多态性与系统性红斑狼疮的相关性分析

The association of sasceptibility of SLE and the gene polymorphism of TNF.

目的明确我国汉族人群中系统性红斑狼疮（ＳＬＥ）病人与肿瘤坏死因子（ＴＮＦ）的基因多态性之间的关系，探讨ＳＬＥ的发病机制。方法采用聚合酶链－单链构象多态性分析（ＰＣＲ－ＳＳＣＰ）、限制性片段长度多态性分析（ＲＦＬＰ）的方法对正常人群与ＳＬＥ病人的ＴＮＦα和ＴＮＦβ基因的单碱基突变多态性进行了分析。结果ＴＮＦα的两个等位基因频率在正常人群中的分布与ＳＬＥ病人相似（Ｐ＞０．５），而ＳＬＥ病人的ＴＮＦβ＊２基因频率较正常人群明显升高（ＳＬＥ病人６５．７％，正常人５４．５％，Ｐ＜０．０５）。结论ＴＮＦα的基因多态性与ＳＬＥ的发病无关。

Objective To evaluate the association between the susceptibility of SLE and the gene polymorphism of TNF in Chinese Han population.Methods The single base change polymorphism in both TNFα gene and TNFβ gene were analyzed among SLE patients and normal controls by using PCR SSCP and PCR RFLP.Results No difference of gene or genotype frequencies of TNFα was noted in SLE patients and normal controls ( P >0.5), whereas TNFβ*2 gene frequency increased significantly in SLE patients (SLE patients 65.7%, normal people 54.5%, P <0.05).Conclusion TNFα gene polymorphism has no effect on SLE, but TNFβ*2 allelic type may be related to the susceptibility of SLE in Chinese Han population to some extent