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自身免疫性甲状腺病TSH受体基因第一外显子突变的研究

The mutation screening of TSH receptor gene exon 1 in autoimmune thyroid disease
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摘要 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 。 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.
出处 《西安医科大学学报》 CAS CSCD 北大核心 2002年第2期186-188,共3页 Journal of Xi'an Medical University(Chinese)
基金 国家自然科学基金资助项目 (No :3 95 70 674)
关键词 第一外显子 自身免疫性甲状腺病 TSH受体 基因突变 autoimmune thyroid disease TSH receptor gene mutation
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参考文献7

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