先天性甲状腺功能减低症一家系TPO基因突变分析

Mutation analysis of thyroid peroxidase gene in a Chinese family with congenital hypothyroidism

目的对一个有2例患者的先天性甲状腺功能减低症家系进行甲状腺过氧化物酶(TPO)基因突变研究。方法对该家系中4名成员采样并提取DNA,用PCR扩增先证者TPO基因各外显子、外显子-内含子交界区以及3'端和5'端非翻译区,以DNA测序技术检测基因突变,并与该家系中其他成员进行对照分析。结果先证者和其患同病的姐姐为TPO基因c.2268insT突变的纯合子,其父母均为此突变的杂合子。结论 TPO基因突变是中国人群先天性甲状腺功能减低症发生的原因之一。

Objective：To identify thyroid peroxidase（TPO） gene mutations in two patients of a Chinese family with congenital hypothyroidism.Methods：Genomic DNA was isolated from peripheral blood samples of 2 patients and 2 healthy members in the pedigree.All of the 17 exons and flanking introns of TPO gene were amplified by PCR,then the PCR products were sequenced bi-directionally.Results：A small insertion mutation c.2268insT was found in TPO gene.Two patients of the family were both homozygous for c.2268insT.Their parents were heterozygous for the mutation.Conclusions：TPO gene mutation was one of the reasons which resulted in Chinese patients with congenital hypothyroidism.