Two-temperature PCR and heteroduplex detection: application to rapid cystic fibrosis screening

Mol Cell Probes. 1991 Feb;5(1):21-5. doi: 10.1016/0890-8508(91)90034-h.

Abstract

We describe a rapid two-temperature PCR protocol for amplification of genomic DNA applied to the region of the most common mutation (delta F508) of the cystic fibrosis gene. Amplification products are detected as homo- or heteroduplexes on polyacrylamide gels as previously described. Data using two-temperature PCR show complete concordance with allele-specific hybridization after classical three-temperature PCR in 105 normal, carrier and affected individuals. Clinical application is demonstrated in a family which was uninformative by traditional RFLP linkage analysis. Two-temperature PCR may offer advantages of speed and specificity over three-temperature PCR in many clinical and research applications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • DNA Mutational Analysis
  • DNA Probes
  • Electrophoresis, Polyacrylamide Gel
  • Gene Amplification
  • Genetic Testing / methods*
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Heteroduplexes / analysis*
  • Nucleic Acid Hybridization
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Restriction Fragment Length
  • Temperature

Substances

  • DNA Probes
  • Nucleic Acid Heteroduplexes
  • Oligodeoxyribonucleotides