Identification of 12 novel mutations in the CFTR gene

Over 200 mutations, besides the deletion ΔF508, have been identified in the CFTR gene and are known to cause CF. In order to characterize the molecular defects of non ΔF508 CF chromosomes of various French origin, we have combined the techniques of denaturing gradient gel electrophoresis (DGGE) and direct sequencing to screen for mutations in the whole coding sequence of the CFTR gene corresponding to the 27 exons and their exon-intron boundaries. This approach enabled us to identify 12 novel mutations which are described here. We have systematically tested a large number of other nucleotide changes distributed in the 27 exons, each of them was clearly detected