Apr 25, 2000

Genotype and phenotype in cystic fibrosis

Respiration; International Review of Thoracic Diseases
J Zielenski

Abstract

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene which encodes a protein expressed in the apical membrane of exocrine epithelial cells. CFTR functions principally as a cAMP-induced chloride channel and appears capable of regulating other ion channels. Besides the most common mutation, DeltaF508, accounting for about 70% of CF chromosomes worldwide, more than 850 mutant alleles have been reported to the CF Genetic Analysis Consortium. These mutations affect CFTR through a variety of molecular mechanisms which can produce little or no functional CFTR at the apical membrane. This genotypic variation provides a rationale for phenotypic effects of the specific mutations. The extent to which various CFTR alleles contribute to clinical variation in CF is evaluated by genotype-phenotype studies. These demonstrated that the degree of correlation between CFTR genotype and CF phenotype varies between its clinical components and is highest for the pancreatic status and lowest for pulmonary disease. The poor correlation between CFTR genotype and severity of lung disease strongly suggests an influence of environmental and secondary genetic factors (CF modifiers). Several candidate genes re...Continue Reading

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Mentioned in this Paper

Microorganism
Pathogenic Aspects
Biochemical Pathway
Exocrine Pancreatic Insufficiency
Cystic Fibrosis With Meconium Ileus
CFM1 gene
Tissue Membrane
Pathogenesis
Mutation, Nonsense
Respiratory Tract Structure

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