ARMS test for diagnosis of factor V Leiden mutation and allele frequencies in France

Mol Cell Probes. 1998 Apr;12(2):121-3. doi: 10.1006/mcpr.1997.0152.


The authors have developed a simple and rapid amplification-refractory mutation system (ARMS) assay for the factor V Leiden mutation (MIM 227400.0001). Polymerase chain reaction (PCR) primers within exon 10 of the factor V gene were designed; one common upstream primer was paired with either a normal or a mutant-specific downstream primer. The assay was validated using factor V Leiden DNA samples of thrombophilic patients ascertained by the restriction enzyme cleavage method of reference. In the normal French population, allele frequencies of the factor V Leiden mutation are 2.6% for the Parisian region and 1.7% for the south of the country.

MeSH terms

  • Alleles*
  • Amino Acid Substitution / genetics
  • Arginine / genetics
  • Factor V / genetics*
  • France
  • Gene Frequency
  • Glutamine / genetics
  • Humans
  • Point Mutation*
  • Thrombophlebitis / diagnosis*
  • Thrombophlebitis / genetics


  • factor V Leiden
  • Glutamine
  • Factor V
  • Arginine