先天性甲状腺功能减低症患者DUOX2基因突变的研究  

Study of the Dual Oxidase 2 （DUOX2） gene mutation of patients with the congenital hypothyroidism

作　　者：闵玲[1] 张国强[1] 周永贤[1] 赖有行[1] 周晓莹[1] 吕波[2] 

机构地区：[1]广东省妇幼保健院检验科,广州510010 [2]广东省人民医院急危重症医学部

出　　处：《中国生育健康杂志》2012年第6期422-424,共3页Chinese Journal of Reproductive Health

基　　金：基金项目：广东省医学科研基金资助（编号：A2010077）

摘　　要：目的对25例先天性甲状腺功能减低症（CH）患者进行DUOX2基因突变分析，初步探讨DUOX2基因突变与CH的关系。方法抽取CH患者外周血并提取DNA，用PCR扩增CH患者DUOX2基因第2、12和21号外显子，用DNA测序技术检测基因突变。结果25例CH患者DUOX2基因第2、12和21号外显子均没有发现基因突变。结论DUOX2基因第2、12和21号外显子的结构改变，在中国人先天性甲状腺功能减低症的病因学中可能不具有重要地位。Objective To identify the Dual Oxidase 2 （DUOX2） gene mutations in 25 patients with the congenital hypothyroidism. Methods Genomic DNA was isolated form peripheral blood samples of 25 Patients with congenital hypothymidism. The 2,21 and 21 exons of DUOX2 gene were amplified by PCR. Then the PCR products were sequenced direetionally. Results No mutations of 2,12 and 21 exons of the DUOX2 gene were found in the 25 patients with the congenital hypothyroidism. Conclusion The structural changes of 2,12 and 21 exons of the DUOX2 gene might not be the primary cause of congenital hypothyroidism in Chinese patients.

关 键 词：先天性甲状腺功能减低症 DUOX2基因 基因突变 

分 类 号：R581.2[医药卫生—内分泌]