Iranian journal of pediatrics · 2015
Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency.
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Khodadad Ahmad, Elahi Elaheh, Bani Hassani Setareh Sadat, Rouhani Pejman, Sadeghi Bamdad, Rezaei Nima
Аннотация
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.
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.