IDENTIFICATION OF 3 NOVEL MUTATIONS (457-TAT-]G, D192G, Q685X) IN THESLOVENIAN CF PATIENTS

Chromosomes from a cohort of 60 Slovenian families, corresponding to t he 121 cystic fibrosis (CF) chromosomes available, were fully scanned for mutations in the coding sequence of the cystic fibrosis transmembr ane conductance regulator (CFTR) gene (The 60 families yielded 121 CF alleles because the mother of one patient was also affected). This cor responds to the 27 exons and intron/exon boundaries that have been stu died in chromosomes carrying unidentified alleles. As a result of this survey 84% of the alleles are now clearly identified and we describe in this paper three novel mutations (457 TAT-->G, D192G, and Q685X).