Cross-linking hybridization assay for direct detection of factor V Leiden mutation

Clin Chem. 1997 Sep;43(9):1703-8.

Abstract

A nucleic acid photocross-linking technology was used in the development of a direct assay for factor V Leiden, a point mutation in the factor V gene (G1691A) that is the most common inherited risk factor for thrombosis. This cross-linking hybridization assay included two allele-specific capture probes and six signal-generating reporter probes; all were modified with a photoactivated cross-linking compound. By using two different capture probes complementary to a 16-base sequence at the factor V Leiden mutation site, but differing in the nucleotide opposite the mutation site (C vs T), wild-type and factor V Leiden alleles were differentiated in purified DNA specimens. The assay was also successfully applied to genomic DNA in leukocytes isolated from whole blood; the factor V status of 122 patients as determined by this method was in complete concordance with a standard PCR-based assay and clearly discriminated between healthy individuals and factor V Leiden heterozygotes.

MeSH terms

  • Alleles
  • Base Sequence
  • Cross-Linking Reagents
  • Erythrocytes / chemistry
  • Exons
  • Factor V / analysis*
  • Factor V / genetics
  • Genotype
  • Humans
  • Mutation
  • Nucleic Acid Hybridization / methods
  • Oligonucleotide Probes
  • Polymerase Chain Reaction / methods
  • Reproducibility of Results
  • Risk Factors
  • Thrombosis / epidemiology
  • Thrombosis / genetics

Substances

  • Cross-Linking Reagents
  • Oligonucleotide Probes
  • factor V Leiden
  • Factor V