采用反向斑点杂交法检测囊性纤维化患者常见CFTR基因突变：来自伊朗北部的首次报告
Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran.
作者信息
Dooki Mohammad-Reza Esmaeili, Akhavan-Niaki Haleh, Juibary Ali Ghabeli
机构信息
Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran.
出版信息
Iran J Pediatr. 2011 Mar;21(1):51-7.
OBJECTIVE
Cystic fibrosis and its distribution vary widely in different countries and/or ethnic groups. Common cystic fibrosis transmembrane conductance regulator (CFTR) mutations were reported from Iran, but the northern population was not or underrepresented in those studies. The aim of this study was to determine the frequency of common CFTR mutations in children from northern Iran.
METHODS
Thirty unrelated Iranian cystic fibrosis patients aged less than 11 years and living in Mazandaran province (in Iran) were screened for 5 common CFTR gene mutations. deltaF508, N1303K, G542X, R347H and W1282X using Reverse Dot Blot method.
FINDINGS
Only one mutation, DeltaF508, was found in 7 patients accounting for 21.7% (13/60) of alleles.
CONCLUSION
These findings can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families.
目的
囊性纤维化及其分布在不同国家和/或种族群体中差异很大。伊朗曾报道过常见的囊性纤维化跨膜传导调节因子（CFTR）突变，但北部人群在这些研究中未被纳入或代表性不足。本研究的目的是确定伊朗北部儿童中常见CFTR突变的频率。
方法
对30名年龄小于11岁、居住在伊朗马赞德兰省的无亲缘关系的伊朗囊性纤维化患者，采用反向点杂交法筛查5种常见的CFTR基因突变，即ΔF508、N1303K、G542X、R347H和W1282X。
结果
仅在7名患者中发现一种突变，即ΔF508，占等位基因的21.7%（13/60）。
结论
这些发现可用于规划未来伊朗囊性纤维化家庭的筛查和适当的遗传咨询项目。
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