Europium-labeled oligonucleotides to detect point mutations: application to PIZ alpha 1-antitrypsin deficiency

Clin Chem. 1993 Aug;39(8):1626-31.

Abstract

We describe a novel assay for detection of point mutations. The method combines the specificity and sensitivity of the polymerase chain reaction (PCR) and allele-specific oligonucleotides (ASO) with highly sensitive time-resolved fluorometry. ASO probes differing by a single base substitution and labeled with europium (Eu) chelates were hybridized in solution simultaneously with a biotinylated oligomer to a PCR-amplified nucleic acid fragment. The hybrids formed were then collected onto streptavidin-coated microtitration wells. Subsequently, the hybrids were washed under stringent conditions and the remaining ASO probe was measured in a time-resolved fluorometer. We discuss the strategy underlying the design of the Eu-labeled ASO probes for the solution hybridization assay. The method was applied to the detection of the Z-mutation in the alpha 1-antitrypsin gene. Evaluation of whole-blood samples spotted on Guthrie cards demonstrated successful accuracy of the method.

Publication types

  • Comparative Study

MeSH terms

  • Base Sequence
  • Biotin
  • Blotting, Southern
  • DNA / analysis
  • Europium*
  • Fluorometry
  • Genotype
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • Oligonucleotide Probes*
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Solutions
  • Time Factors
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin Deficiency*

Substances

  • Oligonucleotide Probes
  • Solutions
  • alpha 1-Antitrypsin
  • Europium
  • Biotin
  • DNA