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目的研究甲状腺激素抵抗综合征(THRS)患儿的临床表现及其家庭甲状腺激素受体β(TRβ)的基因型。方法采集THRS患儿及其父母外周血标本,用PCR技术和直接测序法测定TRβ基因。结果患儿和其父亲检测到TRβ基因有突变,在第3号染色体第3外显子剪切点有一碱基插入,其母亲TRβ基因正常。结论 THRS是甲状腺受体基因突变相关性疾病,基因检测是诊断该病的根本手段。
Objective To study the clinical manifestations and the thyroid hormone receptor β (TRβ) genotype in children with thyroid hormone resistance syndrome (THRS). Methods Peripheral blood samples of THRS children and their parents were collected. The TRβ gene was determined by PCR and direct sequencing. Results There was a mutation in TRβ gene detected in children and their father. One nucleotide insertion was found in the cleavage site of exon 3 of chromosome 3, and the mothers’ TRβ gene was normal. Conclusions THRS is a gene mutation associated with thyroid receptor gene. Genetic testing is the basic method to diagnose the disease.