先天性甲状腺功能减退伴甲状腺肿大患儿DEHAL1基因突变研究  

Investigation of the relationship between mutation of iodotyrosine deiodinase gene and congenital hypothyroidism with goiter

作　　者：张莎莎[1] 李文杰 卢德国[3] 张立琴 郑国华[4] 路坤娜[1] 刘世国[1] 阎胜利[1] 

机构地区：[1]青岛大学医学院附属医院,青岛266003 [2]青岛市妇女儿童保健中心,青岛266011 [3]山东省临沂市人民医院,临沂276003 [4]山东省潍坊市妇幼保健院,潍坊261011

出　　处：《中国优生与遗传杂志》2011年第10期13-15,共3页Chinese Journal of Birth Health & Heredity

基　　金：青岛市科技局课题基金资助;课题编号为10-3-3-2-30NSH

摘　　要：目的研究山东地区先天性甲状腺功能减退伴甲状腺肿大患儿碘化酪氨酸脱碘酶(iodotyrosine deiodinase,DEHAL1)基因突变类型及特点,为基因诊断提供理论依据。方法对18例经新生儿筛查确诊为先天性甲减伴甲状腺肿大患者,采用PCR扩增与直接测序的方法,对DEHAL1基因全部外显子进行基因突变检测。结合测序验证及生物信息学分析,探讨山东地区先天性甲状腺功能减退伴甲状腺肿大患者常见的DEHAL1基因突变类型和特点。结果在18例先天性甲减伴甲状腺肿大患者中,均没有发现DEHAL1基因全部外显子基因突变。分别在5例患者中和4例患者中发现DEHAL1c.678 T>C(p.C265R)和DEHAL1 c.679 G>A(p.R265H)两个单核苷酸多态性位点。结论山东地区先天性甲减伴甲状腺肿大患者中,DEHAL1基因突变率低,可能不是该地区先天性甲减伴甲状腺肿大的主要病因。Objective： We tried to identify iodotyrosine deiodinase（DEHAL1） gene mutation of congenital hypothyroidism with goiter patients from Shandong Province,in order to provide full evidence for gene diagnosis of congenital hypothyroidism.Methods： We collected 18 patients of congenital hypothyroidism with goiter from Shandong Province in this study.All 6 exons of DEHAL1 gene were amplified through PCR and the products were sequenced directly.We tried to analyze the type and characteristic of DEHAL1 gene mutation of congenital hypothyroidism with goiter patients in this region.Results： Two single nucleotide polymorphism of DEHAL1 gene were identified,but no gene mutation was observed.We found DEHAL1 c.678 TC（p.C265R） in 5 patients and DEHAL1 c.679 GA（p.R265H） in 4 patients.Conclusion： The incidence of DEHAL1 gene mutation is very low in congenital hypothyroidism with goiter patients from Shandong Province.It suggests that DEHAL1 gene mutation may not serve as the main cause of congenital hypothyroidism with goiter in Shandong Province.

关 键 词：先天性甲状腺功能减退症 甲状腺肿大 碘化酪氨酸脱碘酶基因 单核苷酸多态性 

分 类 号：R725.8[医药卫生—儿科]