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

Thrombosis and Haemostasis

Volumn 75, Issue 5, 1996, Pages 757-759

  Blasczyk, Rainer ^a   Ritter, Markus ^a   Thiede, Christian ^a   Wehling, Jenny ^a   Hintz, Günter ^a   Neubauer, Andreas ^a   Riess, Hanno ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ALLELE; ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CLINICAL TRIAL; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0029954294     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650362     Document Type: Article

References (11)

1. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-6.
2. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
3. Griffin JH, Evatt B, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993; 82: 1989-93.
4. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-22.
5. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
6. Kalafatis M, Rand MD, Mann KG. The mechanism of inactivation of human factor Va by activated protein C. J Biol Chem 1994; 269: 31869-80.
7. Rosendaal, FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (Activated protein C resistance). Blood 1995; 85: 1504-8.
8. Voorberg J, Roelse J, Koopman R, Buller H, Berends F, ten Cate JW, Mertens K, van Mourik JA. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. Lancet 1994; 343: 1535-6.
9. Miller SA, Dykes DD, Polesky HF, A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215-8.
10. Blasczyk R, Hahn U, Wehling J, Huhn D, Salama A. Complete subtyping of the HLA-A locus by sequence-specific PCR amplification followed by direct sequencing or single-strand conformation polymorphism analysis. Tissue Antigens 1995; 46: 86-95.
11. Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-8.