文章摘要
申红梅,刘翠萍,茅晓东,刘〓超.一甲状腺激素抵抗综合征伴桥本甲状腺炎家系TRβ基因突变分析[J].南京医科大学学报,2010,(3):394~398
一甲状腺激素抵抗综合征伴桥本甲状腺炎家系TRβ基因突变分析
Study on TRβ gene mutation in a thyroid hormone resistance associated with Hashimoto’s thyroiditis family
  
DOI:10.7655
中文关键词: 甲状腺激素抵抗综合征  桥本甲状腺炎  甲状腺激素受体β  突变
英文关键词: thyroid hormone resistance syndrome  Hashimoto’s thyroiditis  thyroid hormone receptor β  mutation
基金项目:江苏医学领军人才基金(LJ200619)
作者单位
申红梅 南京医科大学第一附属医院内分泌科,江苏 南京〓210029 
刘翠萍  
茅晓东  
刘〓超  
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中文摘要:
      目的:分析1例甲状腺激素抵抗综合征伴桥本甲状腺炎患者及家系的甲状腺激素β受体(thyroid hormone receptor-β,TRβ)基因的突变情况?方法:收集患者?9例家系成员及随机抽取的9名健康对照者的外周血标本,检测甲状腺功能并提取基因组DNA,PCR扩增TRβ基因的第1~10个外显子,PCR产物纯化后直接测序检测TRβ基因是否发生突变?结果:TRβ基因的10个外显子未发现碱基替换?插入?缺失等突变情况?结论:TRβ基因突变不是RTH致病的唯一原因?
英文摘要:
      Objective:To study the gene mutation of thyroid hormone receptorβ(TRβ)in a family with thyroid hormone resistance syndrome accompanied by Hashimoto’s thyroiditis. Methods:The peripheral blood samples of the patient,9 family members and 9 healthy subjects were collected,then thyroid function was detected and the genomic DNA was isolated. The exons 1~10 of TRβ gene were amplified by PCR. The products of PCR were purified and sequenced directly to detect the gene mutation. Results:No mutation was found in exon 1~10 of TRβ gene. Conclusion:The mutation of TRβ gene is not only reason for the pathogenesis of thyroid hormone resistance syndrome.
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