Simple and reliable factor V genotyping by PNA-mediated PCR clamping

Thrombosis and Haemostasis

Volumn 79, Issue 4, 1998, Pages 773-777

  Behn, Moira ^a   Schuermann, Marcus ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; DNA; PEPTIDE NUCLEIC ACID;

ALLELE; ARTICLE; BASE MISPAIRING; CASE REPORT; CONTROLLED STUDY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCREENING TEST; THROMBOPHILIA; VEIN THROMBOSIS;

EID: 0031980358     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615063     Document Type: Article

References (19)

1. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previuosly 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.
2. Griffin JH, Evatt B, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993; 82: 1989-93.
3. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: The Leiden Study. Lancet 1993; 342: 1503-6.
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. Dahlbäck B. New molecular insights into the genetics of thrombophilia. Resistance to activated Protein C caused by Arg506 to Gln mutation in factor V as a prognostic risk factor for venous thrombosis. Thromb Haemost 1995; 74: 139-48.
6. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
7. 506Gln mutation in factor Va. Lancet 1994; 343: 1361-2.
8. 506 of factor V. Lancet 1994; 343: 1535-6.
9. 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.
10. 506Q. J Biol Chem 1995; 270: 4053-7.
11. Kirschbaum NE, Foster PA. The polymerase chain reaction with sequence specific primers for the detection of the factor V mutation associated with activated protein C resistance. Thromb Haemost 1995; 74: 874-8.
12. Van-de-Locht LT, Kuypers AW, Verbruggen BW, Linssen PC, Novakova IR, Mensink EJ. Semi-automated detection of the factor V mutation by allele specific amplification and capillary electrophoresis. Thromb Haemost 1995; 74: 1276-9.
13. Engel H, Zwang L, van Vliet HHDM, Michiels JJ, Stibbe J, Lindemans J. Phenotyping and genotyping of coagulation factor V Leiden. Thromb Haemost 1996; 75: 267-9.
14. Zotz RB, Maruhn-Debowski B, Scharf RE. Mutation in the gene coding for coagulation factor V and resistance to activated protein C: detection of the genetic mutation by oligonucleotide ligation assay using a semi-automated system. Thromb Haemost 1996; 76: 53-5.
15. Orum H, Nielsen PE, Egholm M, Berg RH, Buchardt O, Stanley C. Single base pair mutation analysis by PNA directed PCR clamping. Nucleic Acids Res 1993; 21: 5332-6.
16. Nielsen PE. DNA analogues with nonphosphodiester backbones. Annu Rev Biophys Biomol Struct 1995; 24: 167-83.
17. Agarwal S, Iyer RP. Modified oligonucleotides as therapeutic and diagnostic agents. Curr Opin Biotechnol 1995; 6: 12-9.
18. Buchardt O, Egholm M, Berg RH, Nielsen PE. Peptide nucleic acids and their potential applications in biotechnology. Trends Biotechnol 1993; 11: 384-6.
19. Thiede C, Bayerdorffer E, Blasczyk R, Wittig B, Neubauer A. Simple and sensitive detection of mutations in the ras proto-oncogenes using PNA-mediated PCR clamping. Nucleic Acids Res 1996; 24: 983-4.