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 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 VGln506 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 VGln506.
Blasczyk
R
R
Department of Internal Medicine, Virchow-Klinikum, Humboldt-Universität zu Berlin, Germany.
Ritter
M
M
Thiede
C
C
Wehling
J
J
Hintz
G
G
Neubauer
A
A
Riess
H
H
D000483:Alleles; D001483:Base Sequence; D004351:Drug Resistance; D005165:Factor V / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D011486:Protein C / Q000494:pharmacology; D013927:Thrombosis / Q000097:blood / Q000235:genetics*
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V