《生命科学》 2010, 22(4): 352-356

先天性甲状腺功能减退症致病基因的研究进展

王喜英，张科进，张富昌^*

(西北大学生命科学学院人口与健康研究所，西安 710069)

摘　要：摘  要：先天性甲状腺功能减退症(congenital hypothyroidism， CH)是由于甲状腺发育不良或甲状腺激素合成障碍所造成的一种疾病。现已证实有多个基因的遗传变异可导致甲状腺发育不良或甲状腺激素合成障碍。这一结果提示，甲状腺发育不良和甲状腺激素合成障碍与遗传密切相关。该文简单阐述了近年来有关甲状腺激素合成障碍相关基因的研究状况，并对该领域发展做了展望。
关键词：先天性甲状腺功能减退症；甲状腺激素合成；遗传；变异；基因
中图分类号：R582.2；R592.4　　文献标识码：A

Progress of genetic study on congenital hypothyroidism related genes

WANG Xi-ying， ZHANG Ke-jin， ZHANG Fu-chang^*

(Institute of Population and Health， College of Life Science， Northwest University， Xi抋n 710069， China)

Abstract: Abstract: Congenital hypothyroidism(CH) is caused by thyroid dysgenesis or by the disturbance of thyroid hormone synthesis. Recent studies have revealed that mutations in some genes can cause thyroid dysgenesis or dyshormonogenesis. These results suggest that thyroid dysgenesis and dyshormonogenesis may be associated with the heredity of the gene. This paper briefly addresses the research progress of genes associated with dyshormonogenesis in recent years， and gives a new prospect of the development in the area.
Key words: congenital hypothyroidism; dyshormonogenesis; heredity; mutation; gene