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

作　　者：申红梅[1] 刘翠萍[1] 茅晓东[1] 刘超[1] 

机构地区：[1]南京医科大学第一附属医院内分泌科,江苏南京210029

出　　处：《南京医科大学学报（自然科学版）》2010年第3期394-398,共5页Journal of Nanjing Medical University(Natural Sciences)

基　　金：江苏医学领军人才基金(LJ200619)

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。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.

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 

分 类 号：R581[医药卫生—内分泌]