系统性红斑狼疮相关的一个新基因CD40/CD154信号通路分子表达调控的分子机制研究

系统性红斑狼疮(SLE）是严重危害我国人群的一种自身免疫性疾病，然其病因和发病机制尚未完全阐明。CD40/CD154分子基因是新近发现的可能参与SLE发生的一种新基因。在上一个课题研究中我们发现CD40/CD154血清水平的表达在SLE大鼠中明显增高，但他通过何种机制起作用尚不清楚。截止目前未见CD40/CD154基因在临床SLE疾病上的研究，在已有的前期基础上，本课题采用分子生物学技术对SLE患者进行CD40/CD154基因SNP检测；分析CD40/CD154基因突变与SLE的关系。用Real-time PCR和流式细胞等技术分别检测不同基因型SLE患者CD40/CD154基因mRNA和蛋白的表达情况。分析CD40/CD154基因突变对mRNA表达丰度及蛋白表达水平的影响，探讨CD40/CD154基因表达调控的功能，揭示CD40/CD154基因在SLE患者发生、发展中的分子作用机制。

Systematic lupus erythematosus（SLE） as a autoimmune disease which is seriously harm to human health, however, its etiology and pathogenesis have not yet fully understood. CD40/CD154 gene is a new gene, which may be involved in the incidence of SLE, In the previous Guangxi Natural Science Foundation study, we found that CD40/CD154 serum levels expression was significantly increased in rats with SLE, but its mechanism involved in the incidence of SLE is not clear. Up to date, No CD40/CD154 genes in clinical research on disease with SLE. Based on the previous basis, CD40/CD154 gene single nucleotide polymorphisms were examined in disease with SLE by the single base extension PCR technology. Analyze association the gene mutation of CD40/CD154 with SLE. CD40/CD154 gene mRNA and protein expression of different genotypes in patients with SLE were detected by Real-time PCR and Flow cytometry technology. To analysis CD40/CD154 gene mutations may affect SLE through the mRNA expression and protein levels of CD40/CD154 gene, and to study CD40/CD154 gene expression and its function of regulation. Reveal the molecular mechanism of CD40/CD154 gene in occurrence and development of SLE.