Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

Novel complex mutations in the CFTR gene were characterized. All events were caused by non-homologous recombination. Deletion breakpoints were localized to regions of low sequence complexity. Recombination promoting motifs were in the vicinity. Some simple deletions were explicable by replication slippage. Complex deletions appear to have risen by multiple mechanisms. Large genomic rearrangements in the CFTR gene were compared with other genes.