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目的:探讨细胞毒性T细胞相关分子-4(cytotoxicTlymphocyteantigen4,CTLA-4)基因启动子区-318位点基因多态现象在中国南方人群中的分布及与SLE易感性的关系。方法:提取外周静脉血有核细胞基因组DNA,以聚合酶链反应-限制性片段长度多态性(polymerasechainreaction-restrictionfragmentlengthpolymorphism,PCR-RFLP)方法检测180例SLE患者和140名正常对照组CTLA-4基因启动子区-318位点基因型。结果:SLE患者CTLA-4基因启动子区-318位点基因型频率分别为TT型1.1%、TC型41.1%和CC型58.8%,等位基因频率为T等位基因21.7%、C等位基因78.3%。SLE患者各种基因型频率及等位基因频率与对照组比较均无统计学意义。CTLA-4基因启动子区-318位点各基因型与SLE患者临床表现及实验室检查结果无相关关系。结论:SLE患者CTLA-4基因启动子区-318位点基因多态现象与SLE发病无关。
OBJECTIVE: To investigate the distribution of the gene polymorphism at the -318 locus of cytotoxic T lymphocyte antigen 4 (CTLA-4) gene in susceptibility to SLE in southern Chinese population. Methods: The genomic DNA of peripheral blood mononuclear cells was extracted and the CTLA-4 gene of 180 SLE patients and 140 normal controls were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Promoter region-318 locus genotype. Results: The genotype frequency of CTLA-4 promoter at promoter region -318 in SLE patients was 1.1% for TT, 41.1% for TC and 58.8% for CC, respectively. The frequency of allele was 21.7% for T allele and C allele Gene 78.3%. SLE patients with various genotype frequencies and allele frequencies compared with the control group were not statistically significant. There was no correlation between genotypes of CTLA-4 promoter at site-318 and the clinical manifestations and laboratory findings in SLE patients. Conclusion: The polymorphism of CTLA-4 gene promoter site -318 in SLE patients is not associated with the pathogenesis of SLE.