Editor—In the February 1998 issue of the Journal, Verlingue et al 1reported an absence of mutations in the promoter region of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. They analysed a region that spans over 3.9 kb of sequences upstream of the first CFTR exon, including the CFTR promoter, down to 1.3 kb within the first intron. These sequences, shown previously to contain potential regulatory elements,2-4 had been selected on the basis of conservation throughout evolution (phylogenetic footprints) from rodents to primates.2 3 Verlingue et al 1 analysed a cohort of 205 subjects including patients with classical cystic fibrosis (CF), disseminated bronchiectasis, or congenital bilateral absence of the vas deferens (CBAVD), carrying either one or no mutation after scanning all 27 CFTR exons by DGGE (denaturing gradient gel electrophoresis). They further screened 5.2 kb of targeted sequences spanning the CFTR promoter region, but were unable to detect any putative disease related mutation in their sample.

We report the first three nucleotide alterations in the CFTR minimal promoter, defined as a 250 bp fragment …