Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

ABSTRACT:

Objectives

Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to dyshormonogenesis. The aim of this study was to examine the TPO mutation spectrum and prevalence among patients with CH in the Guangxi Zhuang Autonomous Region of China and to define the relationships between TPO genotypes and clinical phenotypes.

Methods

Blood samples were collected from 192 patients with CH in the Guangxi Zhuang Autonomous Region, China and genomic DNA was extracted from peripheral blood leucocytes. All exons of the 10 common CH-associated genes including TPO together with their exon-intron boundaries were screened by next-generation sequencing (NGS). The effect of the novel TPO mutation was investigated by 'in silico'

SUBMITTER: Fu C 

PROVIDER: S-EPMC4874165 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature