ARMS test for diagnosis of factor VLeidenmutation and allele frequencies in France

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The authors have developed a simple and rapid amplification-refractory mutation system (ARMS) assay for the factor VLeidenmutation (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 VLeidenDNA samples of thrombophilic patients ascertained by the restriction enzyme cleavage method of reference. In the normal French population, allele frequencies of the factor VLeidenmutation are 2·6% for the Parisian region and 1·7% for the south of the country.