甲状腺激素抵抗综合征患儿及其家庭的基因研究并文献回顾

摘要

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3(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 genoty of a family of the thyroid hormone receptor β( TRβ) gene and the clinical representation in a patient with thyroid hormone resistance syndrome (THUS). Methods The peripheral blood samples of the patient and her parents were collected, then DNA was isolated. PCR and direct sequencing techniques were performed to determine if there were mutations in their THR(3 gene. Results There was a point mutation in exon 3d TRβ of the patient and her father, there was a base inserting in the third exon of the third chromosome. Her mather was normal . Conclusion THRS is a disease related to thyroid hormone receptor gene mutation . The final diagnosis of this disease depends on gene analysis.