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

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. Key words: Congenital hypothyroidism; Thyroid peroxidase gene; Mutation