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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 25, No. 6, 2015, pp. 1-3
Bioline Code: pe15088
Full paper language: English
Document type: Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 25, No. 6, 2015, pp. 1-3

 en Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency
Khodadad, Ahmad; Elahi, Elaheh; Hassani, Setareh Sadat Bani; Rouhani, Pejman; Sadeghi, Bamdad & Rezaei, Nima


Background: Cystic fibrosis (CF) is the most prevalent lethal autosomal recessive disease with a broad spectrum of phenotypes. Mutation of ΔF508 in the CFTR gene is the most important and lethal mutation in CF, which contains 70% of all predisposing mutations for CF worldwide.
Objectives: Determining frequency of genotypes with ΔF508 mutation in CFTR gene, and evaluation of correlation between genotype and phenotype of Iranian patients with CF.
Patients and Methods: Thirty six patients were included in this cross sectional study. ΔF508 mutations in both alleles of the CFTR gene were checked.
Results: Among 36 pediatric patients, ΔF508 mutation was detected in 9 (25%) patients; 2 patients were heterozygous, and 7 patients homozygous for this mutation. From overall 72 tracked alleles, 11 (15.2%) were found to have ΔF508 mutations. Differences in prevalence of dyspnea and bronchiectasis were significant in homozygote group, compared with non-mutated group for ΔF508.
Conclusions: It seems that more ΔF508 mutated alleles lead to more severe symptoms of CF.

Cystic Fibrosis; Δ F508 Mutation; Genotype; Phenotype

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