Author/Authors :
Khodadad، Ahmad نويسنده , , Elahi، Elaheh نويسنده School of Biology, College of Science, University of
Tehran, Tehran, IR Iran , , Bani Hassani، Setareh Sadat نويسنده Children’s Medical Center, Pediatric Center of Excellence,
Tehran University of Medical Sciences, Tehran, IR
Iran , , Rouhani، Pejman نويسنده Children’s Medical Center, Pediatric Center of Excellence,
Tehran University of Medical Sciences, Tehran, IR
Iran , , Sadeghi، Bamdad نويسنده Research Center for Immunodeficiencies, Children’s Medical
Center, Tehran University of Medical Sciences, Tehran, IR
Iran , , Rezaei، Nima نويسنده ,
Abstract :
Background: Cystic fibrosis (CF) is the most prevalent lethal autosomal recessive disease with a broad spectrum of phenotypes. Mutation of ?F508 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 ?F508 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. ?F508 mutations in both alleles of the CFTR gene were checked.
Results: Among 36 pediatric patients, ?F508 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 ?F508 mutations. Differences in prevalence of dyspnea and bronchiectasis were significant in homozygote group, compared with non-mutated group for ?F508.
Conclusions: It seems that more ?F508 mutated alleles lead to more severe symptoms of CF.
