CFTR gene analysis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6kbA > G mutations.

The large molecular heterogeneity in cystic fibrosis (CF) represents the ma in difficulty for the genotype characterization. Moreover, numerous studies have reported considerable variations in frequencies of cystic fibrosis tr ansmembrane conductance regulator (CFTR) mutations in different populations . Material and methods. - We analyzed the genotype of 207 CF children living in southwest France. Results. - Among 50 identified mutations, we report for some of them a wide ly modified incidence compared with those observed in other regions of Fran ce. These differences were more significant in the subset of the CF chromos omes originating in southwest France. Thus, the 1811+1.6kbA>G mutation, rar ely observed in the other French regions (< 0.5%), proved to be, with a fre quency of 8.8%, the most frequent mutation after the F508 deletion (57%). T he frequencies of N1303K, 1811+1.6kbA>G and R334W mutations were also clear ly increased: 7.9 and 2.6%, respectively. Conclusion. - We show that the southwest of France is characterized by a sp ecific mutational spectrum. We consider that these regional data on the spe ctrum of CF mutations are crucial to develop more accurate and less expensi ve molecular screening strategies for cystic fibrosis in France. (C) 2001 E ditions scientifiques et medicales Elsevier SAS.