title: Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency.
abstract: 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.
  
  
  OBJECTIVE
  Determining frequency of genotypes with ΔF508 mutation in CFTR gene, and evaluation of correlation between genotype and phenotype of Iranian patients with CF.
  
  
  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.
authors.affiliation: Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran ; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Khodadad
authors.affiliation: School of Biology, College of Science, University of Tehran, Tehran, IR Iran.
authors.forename: Elaheh
authors.initials: E
authors.lastname: Elahi
authors.affiliation: Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Setareh Sadat
authors.initials: SS
authors.lastname: Bani Hassani
authors.affiliation: Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Pejman
authors.initials: P
authors.lastname: Rouhani
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Bamdad
authors.initials: B
authors.lastname: Sadeghi
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IR Iran ; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran ; Universal Scientific Education and Research Network, Tehran, IR Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
keywords: Cystic Fibrosis; Genotype; Phenotype; Δ F508 Mutation