High incidence of the CFTR mutations 3272-26A -> G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (l86-2A -> G, E588V, and 1671insTATCA)

Abstract: We have analyzed 143 unrelated Belgian patients with a positive diagnosis of cystic fibrosis (CF) for mutations in the cystic fibrosis transmembrane conductance regular:or (CFTR) gene. An initial screening for 29 CFTR mutations led to mutation identification in 89.9% of the tested chromosomes. Subsequently an extensive analysis of the CFTR gene was performed by denaturating gradient gel electrophoresis (DGGE) in those patients with at least one unknown mutation after preliminary screening. In addition to 10 previously reported mutations we identified 2 new mutations 186-2A -> G an... Mehr ...