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 alter cutting sites on their own. We discuss the implications for the expedient detection of five different CF-causing mutations.