A cluster ofcystic fibrosis mutations inexon 17boftheCFTR gene:a site forrare

Intensive screening hasimproved ourunderstanding oftheprofile ofmutations in theCFTR geneinwhichmore than400 mutations havebeendetected todate.In collaboration withseveral Europeanlaboratories we areinvolved insuchanalysis. We haveidentified 14newmutations inexon17bofCFTR,havinganalysed 780 CFchromosomes, andhavecompared the frequency ofmutations inthisexonwith thatofotherregions oftheCFTR gene. The results obtainedindicate an accumulation ofmutations, notonlyinregionsencoding thetwonucleotide binding folds, butalsointhoseencoding transmembranedomainsoftheCFTR gene,in particular exon17b.