甲状腺激素抵抗综合征家系基因突变情况分析

Mutation in A Thyroid Hormone Resistance Family

目的观察一例甲状腺激素抵抗综合征(RTH)家系甲状腺激素β受体(TRβ)基因突变情况。方法收集该家系4名家庭成员及10名健康对照者外周血,提取基因组DNA,聚合酶链反应(PCR)扩增纯化后直接测序。结果未发现该家系TRβ基因突变。结论 TRβ基因突变并非导致RTH的惟一因素。

Objective To investigate the gene mutation of thyroid hormone receptorβ（TRβ）in a family of thyroid hormone resistance syndrome.Methods Peripheral blood samples of 4 family members and 10 healthy controls were collected with the genomic DNA isolated.PCR was applied for the amplification of the target gene for subsequent sequencing procedure to detect the status of gene mutation.Results No TRβgene mutation was found in the studied family.Conclusion The mutation of TRβgene is not the only reason for the pathogenesis of thyroid hormone resistance syndrome.