SIMPLE AND RAPID DETECTION OF FACTOR-V LEIDEN BY ALLELE-SPECIFIC PCR AMPLIFICATION

Resistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this st udy, primers were designed to identify the factor V mutation by allele -specific PCR amplification. 126 patients with thromboembolic events w ere analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heter ozygous factor VGln(506) mutation was detected, whereas one patient wi th recurrent thromboembolism was homozygous for the point mutation. Du e to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln(506).