致甲状腺功能减退性先天性甲状腺功能减退症患者钠/碘转运体（NIS）基因的G395R突变
The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism.
作者信息
Mostofizade Neda, Nikpour Parvaneh, Javanmard Shaghayegh Haghjooy, Emadi-Baygi Modjtaba, Miranzadeh-Mahabadi Hajar, Hovsepian Silva, Hashemipour Mahin
机构信息
Department of Pediatrics, School of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
出版信息
Int J Prev Med. 2013 Jan;4(1):57-62.
BACKGROUND
Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies in comparison with other countries, the high rate of parental consanguinity, and the role of NIS gene in permanent CH due to dyshormonogenesis, the aim of this study was to investigate the G395R mutation of the NIS gene in patients with permanent CH due to dyshormonogenesis
METHODS
In this case-control study, patients diagnosed with permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood sample was obtained to determine the G395R mutations of NIS gene using polymerase chain reaction (PCR) sequencing method.
RESULTS
In this study, 35 CH patients with permanent CH due to dyshormonogenesis and 35 neonates with normal screening results as a control group were studied. We did not find any changes of the mentioned mutation of NIS gene in the patients' group.
CONCLUSION
Considering the findings of the current study, it seems that further studies with larger sample size and with consideration of other gene mutations such as pendrin and thyroglobulin are needed for more accurate conclusion.
背景
考虑到伊斯法罕先天性甲状腺功能减退症（CH）的高患病率及其与其他国家不同的病因、高近亲结婚率，以及NIS基因在激素合成障碍所致永久性CH中的作用，本研究旨在调查激素合成障碍所致永久性CH患者中NIS基因的G395R突变。
方法
在这项病例对照研究中，选取在CH筛查项目中被诊断为激素合成障碍所致永久性CH的患者。采集静脉血样本，使用聚合酶链反应（PCR）测序方法确定NIS基因的G395R突变。
结果
在本研究中，对35例因激素合成障碍导致永久性CH的患者和35例筛查结果正常的新生儿作为对照组进行了研究。我们在患者组中未发现NIS基因上述突变的任何变化。
结论
考虑到本研究的结果，似乎需要进行更大样本量的进一步研究，并考虑其他基因突变，如pendrin和甲状腺球蛋白，以得出更准确的结论。
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