Spectrum of mutations in cystic fibrosis

Abstract

Cystic fibrosis (CF) is a disorder characterized by elevated sweat electrolytes and thick mucous secretions due to abnormal chloride permeability in epithelial tissues. The gene responsible for this disease, the CF transmembrane conductance regulator (CFTR) was identified by a positional cloning approach 3 years ago. Since that time, over two hundred mutations have been found in CFTR genes from affected individuals. Analysis of these disease-associated mutations has provided new insight into the etiology of this disease and into the mechanisms of epithelial electrolyte secretion.