CD40基因多态性与自身免疫性甲状腺病的相关性 (作者:___________单位: ___________邮编: ___________) 【摘要】目的了解CD40基因多态性在西北地区汉族人群中的分布及其与自身免疫性甲状腺病(AITD)的相关性。方法随机选取本院内分泌科门诊的165例Graves病(GD)患者、113例桥本甲状腺炎(HT)患者为研究对象,以94例健康体查者为对照。①应用聚合酶链反应限制性酶切片段长度多态性技术检测CD40基因5′非翻译区1位点C/T多态性(5′UTR C(1)T)、第三外显子58038位点-/T多态性;②应用扩增受阻突变系统-聚合酶链反应检测第九外显子64610位点C/G多态性。结果①5′UTR C(1)基因型、C等位基因在GD组和对照组间有显著差异();②58038位点在372例样本中均为TT型;③64610位点未发现GG基因型。结论①西北地区汉族人CD40基因5′UTR C(1)基因型者患GD的危险性较TT高;②58038位点-/T在西北地区汉族人中无多态性;③64610位点C/G在西北地区汉族人中未发现GG基因型。 【关键词】自身免疫性甲状腺病 CD40基因单核苷酸多态性 ABSTRACT: Objective To investigate polymorphism of CD40 gene and its relation with autoimmune thyroid disorders (AITD) in China s Northwest region. Methods The study recruited 372 subjects: 165 Graves disease (GD) and 113 Hashimotos thyroiditis (HT) and 93 healthy subjects as controls. ① Using PCRrestriction fragment length polymorphism (PCRRFLP) to analyze the C/T polymorphism in the 5′UTR and the 58038T point mutation in exon3. ② Using amplification refractory mutation systemPCR (ARMSPCR) to analyze the C64610G point mutation in exon9. Results ① There were significant differences in allele frequencies of C and between GD group and control group in 5′UTR C(1)T (). ② We only found TT gene type in 58038 T in the 372 subjects. GG gene type was not found. Conclusion ① The CD40 gene 5′UTR C(1)T polymorphism is associated with GD and C allele ap