Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Cystic fibrosis and distribution and mutation analysis of CFTR gene in iranian patients

Mon Aug 8 17:58:03 2022

(2014) Cystic fibrosis and distribution and mutation analysis of CFTR gene in iranian patients. Koomesh. pp. 431-440. ISSN 16087046 (ISSN)

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Official URL: https://www.scopus.com/inward/record.uri?eid=2-s2....

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.21832184delAAinsG (5.56), p.N1303K (4.81), c.2789+5G>A (4.44), p.S466X (4.44) and p.G542X (4.07).

Item Type: Article
Creators:
CreatorsEmail
Reza Havasian, M.UNSPECIFIED
Panahi, J.UNSPECIFIED
Mahdieh, N.UNSPECIFIED
Keywords: CFTR Cystic fibrosis Iranian population clinical feature cystic fibrosis transmembrane conductive regulator gene gene gene deletion gene mutation genetic analysis human Iranian people phenotype review CFTR gene Iran loss of function mutation mutational analysis population genetics cystic fibrosis transmembrane conductance regulator
Divisions:
Page Range: pp. 431-440
Journal or Publication Title: Koomesh
Journal Index: Scopus
Volume: 15
Number: 4
ISSN: 16087046 (ISSN)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/1530

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