MUTATION ANALYSIS IN 600 FRENCH CYSTIC-FIBROSIS PATIENTS

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excludi ng Brittany) was screened for 105 different mutations. This analysis r esulted in the identification of 86% of the CF alleles and complete ge notyping of 76% of the patients. The most frequent mutations in this p opulation after Delta F508 (69% of the CF chromosomes) are G542X (3.3% ), N1303K (1.8%), W1282X (1.5%), 1717-1G-->A (1.3%), 2184de1A+2183 A-- >G (0.9%), and R553X(0.8%).