先天性甲状腺功能减低症一家系DUOXA2基因突变分析  

Mutation analysis of dual oxidase maturation factor 2 gene in a Chinese family with congenital hypothyroidism

作　　者：李海飞[1] 刘一心[1] 刘洋[1] 李素丽[1] LI Hai-fei LIU Yi-xin LIU Yang LI Su-li(Shenzhen Maternal and Children Health Care Hospital, Shenzhen, Guangdong, 518048, P.R China)

机构地区：[1]深圳市妇幼保健院,广东深圳518048

出　　处：《中国优生与遗传杂志》2017年第4期37-38,88,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市科技计划项目基础研究项目(编号JCYJ20150402090413027)

摘　　要：目的对一个先天性甲状腺功能减低症家系进行二元氧化酶成熟因子2(DUOXA2)基因突变研究。方法对该家系中4名成员采样并提取DNA,用wafergen验证检测先证者甲状腺过氧化物酶(TPO)基因、二元氧化酶2(DUOX2)基因和二元氧化酶成熟因子2(DUOXA2)基因。PCR扩增先证者DUOXA2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DUOXA2基因突变,并与该家系中其他成员进行对照分析。结果先证者为DUOXA2基因c.413_414ins A突变和c.537C>A突变的复合杂合子,其父亲及胞姐均为c.537C>A突变杂合子,其母亲为c.413_414ins A突变的杂合子。结论 DUOXA2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 dual oxidase maturation factor 2（DUOXA2）gene mutations in a patient of a Chinese family with congenital hypothyroidism. Methods：Genomic DNA was isolated from peripheral blood samples of 1 patient and 3healthy members in the pedigree.thyroid peroxidase（TPO）gene,dual oxidase 2（DUOX2）gene and dual oxidase maturation factor 2（DUOXA2）gene mutations were detected by wafergen technique. All of the exons and flanking introns of DUOXA2 gene were amplified by PCR,then the PCR products were sequenced bi-directionally. Results：A insertion mutation c.413_414ins A and a nonsense mutation c.537CA was found in DUOXA2 gene of the patient. The father and elder sister were heterozygous for the mutation c.537CA. The mother was heterozygous for the mutation c.413_414ins A. Conclusions：DUOXA2 gene mutation was one of the reasons which resulted in Chinese patients with congenital hypothyroidism.

关 键 词：先天性甲状腺功能减低症 DUOXA2基因 基因突变 

分 类 号：R725.8[医药卫生—儿科]