A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis

Abstract

German cystic fibrosis patients were screened for mutations in exon 21 of the cystic fibrosis transmembrane conductance regulator gene by a non-radioactive variation of the single-strand conformation polymorphism technique. Asymmetric polymerase chain reaction amplification was used to produce single strands of exon-containing genomic sequences that were analyzed on polyacrylamide gels subsequently stained with ethidium bromide. This rapid technique led to the identification of a novel mutation, a 1-bp deletion at position 4035(A) of the cDNA sequence. The patient, who is also heterozygous for the delta F508 mutation, exhibits an intermediate form of the disease.