自身免疫性甲状腺病TSH受体基因第一外显子突变的研究

目的　探讨自身免疫性甲状腺病发病与TSH受体基因第一外显子突变之间的关系。方法　用PCR SSCP方法对 1 46例Graves病 ,30例桥本甲状腺炎患者外周血白细胞DNATSH受体基因第一外显子突变进行筛查。结果　经PCR扩增后均出现明晰可辨的带型 ,SSCP分析1 76例无 1例出现异常泳动。结论　PCR SSCP分析未发现自身免疫性甲状腺病患者TSH受体基因第一外显子有突变 ,提示自身免疫性甲状腺病发病可能与TSH受体基因第一外显子突变无关

The mutation screening of TSH receptor gene exon 1 in autoimmune thyroid disease

Objective To explore the relationship between the pathogenesis of autoimmune thyroid disease and the mutation of thyroid stimulating hormone (TSH) receptor gene exon 1.Methods The exon 1 of TSH receptor gene was analysed with polymerase chain reaction single strand conformation polymorphism (PCR SSCP) in 146 patients with Graves disease and 30 patients with Hashimoto thyroiditis. Results No abnormal migration was found in PCR SSCP analysis of the two groups.Conclusion No mutation in exon 1 of TSH receptor gene presented in autoimmune thyroid disease. This study suggests that the pathogenesis of autoimmune thyroid disease is not associated with the mutation of TSH receptor gene exon 1.