title: ARMS test for diagnosis of factor V Leiden mutation and allele frequencies in France.
abstract: 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.
authors.affiliation: LCL Laboratory, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Bathelier
authors.forename: T
authors.initials: T
authors.lastname: Champenois
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005602:France; D005787:Gene Frequency; D005973:Glutamine / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D013924:Thrombophlebitis / Q000175:diagnosis* / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005973:Glutamine; D005165:Factor V; D001120:Arginine