Sasaki S, Nakamura H
Department of Internal Medicine, Kyoto University School of Medicine.
Nihon Rinsho. 1994 Apr;52(4):929-34.
The syndrome of thyroid hormone resistance is an inherited disease characterized by reduced thyroid hormone actions in the tissue. Clinically it is classified into two types: generalized resistance to thyroid hormone (GRTH) and pituitary resistance (PRTH). Recent advances in molecular biology have revealed a number of genetic abnormalities of thyroid hormone receptor beta (TR beta) in this disorder. The mutations of TR beta localized to two "hot spots" in the ligand binding domain. This article describes the basic procedures how to analyze TR beta genes and the functions of mutant TRs. Single stranded conformation polymorphism method is useful for screening and DNA sequencing is important to identify a TR gene mutation in patients. It is also necessary to construct the expression vector containing the mutant TR beta 1 gene to evaluate the mutant receptor functions.
甲状腺激素抵抗综合征是一种遗传性疾病，其特征为组织中甲状腺激素作用减弱。临床上可分为两种类型：全身性甲状腺激素抵抗（GRTH）和垂体抵抗（PRTH）。分子生物学的最新进展揭示了该疾病中甲状腺激素受体β（TRβ）的一些基因异常。TRβ的突变定位于配体结合域的两个“热点”。本文描述了分析TRβ基因的基本步骤以及突变型TR的功能。单链构象多态性方法有助于筛查，而DNA测序对于鉴定患者的TR基因突变很重要。构建包含突变型TRβ1基因的表达载体以评估突变型受体的功能也是必要的。
