Mutation analysis of thyroid peroxidase gene in 20 Chinese patients with congenital hypothyroidism

VernacularTitle:20例先天性甲状腺功能减退症患者甲状腺过氧化物酶基因突变分析
Author: Haifei LI ; Yixin LIU ; Jiansheng XIE ; Bin CHEN ; Suli LI
Publication Type:Journal Article
Keywords: Congenital hypothyroidism; Thyroid peroxidase gene; Mutation
From: Chinese Journal of Endocrinology and Metabolism 2011;27(8):670-672
CountryChina
Language:Chinese
Abstract: Thyroid peroxidase(TPO) gene was detected in 20 patients with congenital hypothyroidism. An insertion c. 2268insT of TPO gene was found in one of them, and c. 2268insT combined with c. 1477G＞C mutation in another. TPO gene mutation may be related to pathogenesis of congenital hypothyroidism in Chinese.