【摘要】 目的:探讨白介素(IL)-12B基因启动子区多态性与Graves病的关系。方法:从189例Graves病患者(GD组)和188例正常对照者(对照组)外周血标本中提取基因组DNA,聚合酶链反应(PCR)扩增IL-12B基因启动子,PCR产物直接测序检测突变情况,分析其基因表型、基因频率与Graves病的关系。结果:在IL-12B的启动子区检测到2个SNPs:-671G/T和-405G/T,2个SNPs紧密连锁,多态性分布符合Hardy-Weinberg平衡,基因型和等位基因频率在GD组和对照组中分布无统计学差异(P>0.05)。结论:IL-12B基因启动子区存在多态性变异,-671G/T和-405G/T可能不是Graves病发病的危险因素。更多还原

【Abstract】 Objective To investigate the relationship between the genetic polymorphisms of interleukin 12B(IL-12B) promoter and Graves′ disease (GD). Methods Genomic DNA was extracted from peripheral blood of 189 GD patients(GD group) and 188 healthy control subjects (control group). IL-12B gene promoter was amplified by polymorphism chain reaction (PCR). The PCR products were sequenced to detect genetic mutation. The genotype, allele frequency and their correlation with GD were analyzed. Results Two SNPs were detected in the promoter of IL-12B gene: -671G/T and -405G/T. The 2 polymorphisms showed close linkage and its polymorphism distribution was consistent with Hardy-Weinberg equilibrium. Their genotype and allele frequencies in the GD group did not differ from those in the control group (P > 0.05). Conclusion There are 2 polymorphism sites of the promoter of IL-12B gene, but they don′t confer genetic susceptibility to GD.更多还原