Simple and rapid detection of factor V Leiden by allele-specific PCR amplification

Thromb Haemost. 1996 May;75(5):757-9.

Abstract

Resistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

MeSH terms

  • Alleles
  • Base Sequence
  • Drug Resistance
  • Factor V / genetics*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction / methods*
  • Protein C / pharmacology
  • Thrombosis / blood
  • Thrombosis / genetics*

Substances

  • Protein C
  • factor V Leiden
  • Factor V