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Updated: Aug 14, 2026

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
Published on: September 25, 2018
Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis
K J Friedman1, W E Highsmith, L M Silverman
1Department of Hospital Laboratories, North Carolina Memorial Hospital, University of North Carolina, Chapel Hill 27514.
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.
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