青岛地区甲状腺缺如的先天性甲状腺功能减低症患儿NKX2-1基因突变研究  

A study on the relationship between NKX2-1 gene mutations and congenital hypothyroidism with athyreosis in Qingdao

作　　者：路坤娜[1] 靳宪莲[2] 于晓霞[3] 李文杰 孙纯[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266071 [2]山东省济宁市妇女儿童医院,济宁272025 [3]青岛大学医学院,青岛266021 [4]青岛市妇女儿童医院,青岛266011

出　　处：《中国优生与遗传杂志》2013年第2期14-16,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金81170812;青岛市科技局课题基金10-3-3-2-30NSH

摘　　要：目的研究青岛地区24例甲状腺缺如的先天性甲状腺功能减低症患儿NKX2-1基因突变的类型和特点,为先天性甲状腺功能减低症的基因诊断和基因治疗提供理论依据。方法收集24例甲状腺缺如的先天性甲状腺功能减低症患儿的外周静脉血,提取基因组DNA,采用PCR扩增与直接测序的方法对NKX2-1全部外显子进行基因突变检测。结果在24例甲状腺缺如的先天性甲状腺功能减低症患儿的全部外显子测序中,均未发现NKX2-1外显子区基因突变。在6例患儿中发现NKX2-1基因5’UTR区单核苷酸多态性(SNP)位点(+12 G>T)。结论 NKX2-1基因突变可能不是青岛地区甲状腺缺如的先天性甲状腺功能减低症患儿的主要病因。Objective： We tried to study on NKX2-1 gene mutations of congenital hypothyroidism with athyreosis in Qingdao,in order to provide some evidence for gene diagnosis and gene treatment of congenital hypothyroidism.Methods： We collected peripheral venous blood samples from 24 patients with congenital hypothyroidism and athyreosis,and then we extracted genomic DNA.All 3 exons of NKX2-1 gene were amplified by PCR-direct sequencing.Results： One novel single nucleotide polymorphism was identified,but no mutation was observed.We found NKX2-1 ＋12GT in 6 patients.Conclusion： NKX2-1 gene mutation may not serve as the main cause of congenital hypothyroidism with athyreosis in Qingdao.

关 键 词：甲状腺转录因子1基因 先天性甲状腺功能减低症 甲状腺缺如 突变 单核苷酸多态性 

分 类 号：R725.8[医药卫生—儿科]