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
The study of the patient and his parents' gene with thyroid hormone resistance syndrome with review of literature
杨晨炜 1张茜2
作者信息
- 1. 苏州大学附属第一医院儿科,江苏苏州215006
- 2. 苏州大学附属第一医院江苏省血液研究所,江苏苏州215006
- 折叠
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.
Abstract
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.
关键词
甲状腺激素抵抗综合征/基因Key words
thyroid hormone resistance syndrome/gene引用本文复制引用
出版年
2012
NETL
NSTL
维普
万方数据