title: Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis.
abstract: The polymerase chain reaction (PCR) has been applied in a novel manner to detect the multiple mutations causing cystic fibrosis (CF). PCR-mediated site-directed mutagenesis (PSM) has been applied to create allele-specific restriction enzyme cutting sites for three of the more common mutations. Two other mutations after cutting sites on their own. We discuss the implications for the expedient detection of five different CF-causing mutations.
authors.affiliation: Department of Hospital Laboratories, North Carolina Memorial Hospital, University of North Carolina, Chapel Hill 27514.
authors.forename: K J
authors.initials: KJ
authors.lastname: Friedman
authors.forename: W E
authors.initials: WE
authors.lastname: Highsmith
authors.forename: L M
authors.initials: LM
authors.lastname: Silverman
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
chemical_list: D004247:DNA