frequency of genotype with δf508 mutation in cftr gene among iranian cystic fibrosis patients with pancreatic insufficiency

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.