[Molecular diagnosis of cystic fibrosis]

Cystic fibrosis [CF] is the most common autosomal recessively inherited disease in the caucasian population. Based upon the population frequency of approximately 1 in 2000 in Switzerland, the heterozygote frequency can be calculated to be 1 in 22. The genetic basis for CF has been shown to be mutations in the gene coding for an epithelial membrane chloride channel, the Cystic Fibrosis Transmembrane conductance Regulator [CFTR]. To date over 500 mutations have been characterized in this gene. The frequency of specific mutations varies amongst different ethnic groups. In Switzerland 8 mutations have been shown to account for approximately 90% of all CF causing alleles. The cloning and molecular characterization of the CFTR gene has lead to a major breakthrough in the understanding of the biochemical basis of CF pathogenesis. Advances through analysis of cellular and animal model systems have made a genetic based therapy for CF a real possibility.