【摘要】 目的：对 Graves 病伴眼病与不伴眼病患者 CTLA-4基因外显子1第17密码子49位点 A/G 多态 性进行研究，以期探讨 Graves 病惠者伴发眼病的原因。方法：应用 PCR 技术并采用限制性内切酶 BbvI 来 测定107例 Graves 病患者(其中伴突眼的50例，不伴眼病的57例)及57例健康对照者外周血单个核细 胞 CTLA-4基因外显子1第17密码子49位点 A/G 多态性。分析其基因表型、基因频率与眼病的关系。结 果：无眼病 GD 组 GG 基因型的频率及等位基因 G 的频率与健康对照组相比差异均无显著性。而伴眼病 GD 组其 GG 基因型的频率及等位基因 G 的频率明显高于无眼病 GD 组及健康对照组。结论：CTLA-4外显子1第 17密码子49位点 A/G 二态性 GG 基因表型可能是 GD 患者伴发突眼的重要因素。更多还原

【Abstract】 Objective:To investigate the relationship and CTLA-4 gene A/G polymorphism at position 49 in exon 1 and Graves’disease with(GO)and without ophthalmopathy.Methods:57 healthy control subjects and 107 GD patients(among the 107 GD patients,50 with GO,57 without GO)subjects were studied.CTLA-4 gene A/G polymorphism at position 49 in exon 1 were detected with PCR technique and restriction endonucleases BbvI.The genotype, allele frequencies were analyzed.Results:GG genotype and G allele frequencies in GD patients with ophthalmopathy were significantly higher than that in healthy control subjects and GD without GO subjects,but there was no difference in GD without ophthalmopathy subjects,compared with healthy control subjects.Conclusion:The GG geneotype of the CTLA-4 gene at position 49 in exon 1 plays an important role in GD patients accompanied with GO.更多还原