Detection of factor V Leiden from a drop of blood by PCR-SSCP

Thromb Haemost. 1996 Nov;76(5):735-7.

Abstract

Recently, a point mutation in the coagulation Factor V gene (G to A in position 1691) has been identified which makes the mutant Factor V (called Factor V Leiden) resistant to activated protein C. This defect is a well established genetic risk factor in venous thrombosis. Because of the high prevalence of Factor V Leiden in normal population (2-7%), it would be reasonable to perform a rapid and simple method for screening the genetic abnormality in population at risk. We have developed a simple, reproducible, rapid and cheap procedure that, using PCR and SSCP, allows the identification of the mutation responsible for Factor V Leiden. Specificity of this method has been tested in 319 samples: 304 normal, 14 heterozygous and 1 homozygous for Factor V Leiden. This assay allows non-isotopic Factor V Leiden identification by using frozen whole blood in 3 h. All these features make this test adequate for routine screening of this mutation in a large number of samples.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Factor V / analysis*
  • Factor V Deficiency / blood*
  • Factor V Deficiency / complications
  • Factor V Deficiency / genetics
  • Humans
  • Microchemistry
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Single-Stranded Conformational*
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Thrombophlebitis / blood
  • Thrombophlebitis / etiology

Substances

  • factor V Leiden
  • Factor V