Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency
| Author | Ahmad Khodadad | en |
| Author | Elaheh Elahi | en |
| Author | Setareh Sadat Bani Hassani | en |
| Author | Pejman Rouhani | en |
| Author | Bamdad Sadeghi | en |
| Author | Nima Rezaei | en |
| Issued Date | 2015-12-28 | en |
| 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. 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. | en |
| DOI | https://doi.org/10.5812/ijp.3419 | en |
| Keyword | Cystic Fibrosis | en |
| Keyword | Δ F508 Mutation | en |
| Keyword | Genotype | en |
| Keyword | Phenotype | en |
| Publisher | Brieflands | en |
| Title | Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency | en |
| Type | Brief Report | en |
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