General cystic fibrosis mutations are usually missense mutations affecting two specific protein domains and associated with a specific RFLP marker haplotype.

Abstract excerpt

Some 250 different mutations have so far been screened in the cystic fibrosis (CF) gene. The 50 nonsense, 33 splicing and 60 frameshift mutations are randomly distributed within the gene, unlike the 107 missense mutations or amino acid deletions. A large excess of missense mutations affects the exons encoding the first transmembrane (MS1) and first ATP-binding fold (NBF1) domains. Sixty-four of the 107 missense...

Topics

• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Genetic Linkage
• Haplotypes
• Humans
• Membrane Proteins
• Mutation
• Polymorphism, Restriction Fragment Length