Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

Int J Clin Lab Res. 1995;25(3):142-5. doi: 10.1007/BF02592555.

Abstract

We describe the use of a polymerase chain reaction in conjunction with a DNA enzyme immunoassay for the simultaneous detection of five common cystic fibrosis mutations. The method is specific, sensitive, rapid, and proved effective in Guthrie card-based screening of cystic fibrosis mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • DNA Mutational Analysis
  • Genetic Carrier Screening
  • Genetic Testing
  • Genotype
  • Humans
  • Immunoenzyme Techniques
  • Infant, Newborn
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Oligonucleotide Probes