394DELTT - A NORDIC CYSTIC-FIBROSIS MUTATION

In a systematic screening for mutations in the gene encoding the cysti c fibrosis transmembrane regulator among Danish cystic fibrosis (CF) p atients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened fo r 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It also occurs with a high frequency in Finland, but has not been found in la rger surveys of mutations in the CFTR gene. Thus, 394delTT seems to be a specific Nordic CF mutation.