Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency

Author(s): 
Khodadad A1
Elahi E2
Bani Hassani SS3
Rouhani P3
Sadeghi B4
Rezaei N5
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 genewere checked.

RESULTS:

Among 36 pediatric patients, ΔF508 mutation was detected in 9 (25%) patients; 2 patients were heterozygous, and 7 patientshomozygous 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.

URL: 
https://www.ncbi.nlm.nih.gov/pubmed/?term=Frequency+of+Genotype+With+%CE%94F508+Mutation+in+CFTR+Gene+Among+Iranian+Cystic+Fibrosis+Patients+With+Pancreatic+Insufficiency

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