CFTR GENE ANALYSIS IN CYSTIC-FIBROSIS PATIENTS - DETECTION OF 91 PERCENT OF MOLECULAR DEFECTS AND IDENTIFICATION OF THE NOVEL MUTATION D979V

More than 600 mutations have been identified in the Cystic Fibrosis Tr ansmembrane Conductance Regulator (CFTR) gene and are known to cause c ystic fibrosis (CF). This large number of mutations makes the search o f the molecular defects in CF patients difficult. We have used the tec hniques of denaturing gradient gel electrophoresis (DGGE) and direct D NA sequencing to detect the mutations in 334 CF chromosomes mostly of French origin. The whole coding sequence of the CFTR gene correspondin g to the 27 exons and their exon-intron boundaries was studied. 45 dif ferent mutations were identified. This method allowed us to detect the molecular defect in 90,5 % of the mutant alleles and to report a nove l mutation D979V.