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

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，ＴＮＦβ＊２等位基因与ＳＬＥ发病的易感性相关

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

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 TNF alpha gene and TNF beta 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 TNF alpha was noted in SLE patients and normal controls (P > 0.5), whereas TNF beta * 2 gene frequency increased significantly in SLE patients (SLE patients 65.7%, normal people 54.5%, P < 0.05). CONCLUSION: TNF alpha gene polymorphism has no effect on SLE, but TNF beta * 2 allelic type may be related to the susceptibility of SLE in Chinese Han population to some extent.