Journal of Semnan University of Medical Sciences
Cystic fibrosis anddistribution and mutation analysis of CFTR gene in Iranian patients
Authors
Abstract
Cystic fibrosis is one of the most lethal multi-system disorders and is the most common autosomal recessive disease in Caucasians. The related protein is named cystic fibrosis transmembrane conductive regulator (CFTR). Various mutations in CFTR gene have been reported to cause CFTR loss of function and diseased phenotype. The most prevalent mutation is ΔF508, deletion of phe at position 508. Here, we briefly explain clinical features and diagnostic methods of the disease firstly, and then the genetics of the disease and its mutations as well as genetic studies in Iranian populations are reviewed. Up to now, totally 56 different mutations have been reported in Iranian patients which 8 of them reported for the first time. Seven common mutations in this population are as follows p.F508del (33.33%), c.1677delTA (7.41%), c.2183_2184delAAinsG (5.56%), p.N1303K (4.81%), c.2789+5G>A (4.44%), p.S466X (4.44%) and p.G542X (4.07%).
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© 2014, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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