NKX2.5基因中的c.63A>G多态性与甲状腺发育异常患儿的甲状腺发育不全有关。
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis.
作者信息
Cerqueira Taise Lima de Oliveira, Ramos Yanne, Strappa Giorgia, Martin Daniel San, Jesus Mariana, Gonzaga Jailciele, Ferreira Paulo, Costa Anabel, Fernandes Vladimir, Amorim Tatiana, Ladeia Ana Marice, Ramos Helton
机构信息
Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
Hospital Santa Izabel, Escola Bahiana de Medicina e Saúde Pública, Salvador, BA, Brasil.
出版信息
Arch Endocrinol Metab. 2015 Dec;59(6):562-7. doi: 10.1590/2359-3997000000100. Epub 2015 Sep 25.
OBJECTIVE
To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD.
SUBJECTS AND METHODS
Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced.
RESULTS
CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia.
CONCLUSION
NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia.
目的
在患有先天性心脏病（CHD）和甲状腺发育异常（TD）的患者中寻找NKX2.5基因的遗传改变。
对象与方法
对86例甲状腺发育异常（TD）患儿进行仔细的个体表型分析，采用甲状腺功能测试、闪烁扫描、超声心动图检查。提取DNA，通过聚合酶链反应（PCR）扩增NKX2.5基因编码区并进行测序。
结果
在TD患者中，8.1%发现患有CHD。突变筛查在孤立性TD或与CHD相关的TD患者中发现了两种已知的多态性。预计它们均不会导致保守结构域中的密码子改变。在54/86例患者（49例孤立性TD和5例TD合并CHD）中检测到c.63A>G多态性。c.63A>G多态性与甲状腺发育不全存在显著相关性（p<0.036）。仅在1例孤立性甲状腺发育不全患者中观察到c.541G>A多态性。
结论
未发现NKX2.5突变。c.63A>G多态性可能与甲状腺发育不全有关。
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