ABSTRACT
Cystic fibrosis (CF) is the most frequent, fatal autosomal recessive disease, affecting Caucasians with an incidence of 1:2000–2500. A set of consensus guidelines for CF patient management has been issued, and the diagnosis of CF at the gene level is believed to “contribute to confirmation of the diagnosis of CF in the future”. The CF locus has been linked to a polymorphic locus controlling the activity of serum aryl esterase paraoxanase subsequently assigned to chromosome 7. Physical mapping of the CF region, using pulsed-field gel electrophoresis, saturation cloning, chromosome jumping, and chromosome walking, helped to accelerate cloning of deoxyribonucleic acid from the target region. The disturbances in electrolyte transport and its regulation have been linked to the CF gene product, the cystic fibrosis transmembrane conductance regulator (CFTR). The CF gene product, called CFTR, is 1480 amino acids long with a molecular mass of 168,138 Da.
