Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis

K. J. Friedman, W. E. Highsmith, L. M. Silverman

Research output: Contribution to journalArticle

74 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)753-755
Number of pages3
JournalClinical chemistry
Volume37
Issue number5
DOIs
StatePublished - 1991

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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