Sunthornthepvarakul T, Angsusingha K, Likitmaskul S, Ngowngarmratana S, Refetoff S
Department of Medicine, Rajavithi Hospital, Bangkok, Thailand.
Thyroid. 1997 Dec;7(6):905-7. doi: 10.1089/thy.1997.7.905.
Analysis of the thyroid hormone receptor beta (TRbeta) gene of a Thai female with the syndrome of resistance to thyroid hormone (RTH) revealed a missense mutation at codon 317, changing the guanine in nucleotide 1234 to an adenine that results in the replacement of the normal alanine (GCT) with a threonine (ACT). The proposita was heterozygous, and this mutation was not present in her parents and her sister, compatible with a neomutation. This is the first report of TRbeta gene mutation causing RTH in an individual of Thai origin.
对一名患有甲状腺激素抵抗综合征（RTH）的泰国女性的甲状腺激素受体β（TRbeta）基因进行分析，发现第317密码子处存在错义突变，核苷酸1234中的鸟嘌呤被腺嘌呤取代，导致正常的丙氨酸（GCT）被苏氨酸（ACT）取代。先证者为杂合子，其父母和姐姐中不存在这种突变，符合新发突变。这是关于TRbeta基因突变导致泰国裔个体发生RTH的首例报告。
