Section 10
Chapter 9,418

Simple and rapid detection of factor V Leiden by allele-specific PCR amplification

Blasczyk, R.; Ritter, M.; Thiede, C.; Wehling, J.; Hintz, G.; Neubauer, A.; Riess, H.

Thrombosis and Haemostasis 75(5): 757-759


ISSN/ISBN: 0340-6245
PMID: 8725719
Accession: 009417381

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

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