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Rapid genotyping of haemostatic gene polymorphisms using the 5' nuclease assay.

Journal article
Authors Anna Tjärnlund
Maria Andersson
Katarina Jood
Per Ladenvall
Christina Jern
Published in Thrombosis and haemostasis
Volume 89
Issue 5
Pages 936-42
ISSN 0340-6245
Publication year 2003
Published at Cardiovascular Institute
Institute of Clinical Neurosciences
Pages 936-42
Language en
Keywords Blood Coagulation Factors, genetics, Blood Proteins, genetics, Diagnosis, Computer-Assisted, Genetic Screening, methods, Genotype, Hemostasis, genetics, Humans, Polymerase Chain Reaction, methods, Polymorphism, Single Nucleotide, Thrombophilia, diagnosis, genetics
Subject categories Medical Genetics, Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)


Hemostatic gene polymorphisms have been shown to be associated with arterial and venous thrombotic disease. To date these polymorphisms have mainly been detected by labor-intensive conventional gel based methods. Aim of the present study was to design and optimize high throughput 5' nuclease assays for the detection of a set of 10 single-nucleotide polymorphisms (SNP) in genes of importance for hemostasis: plasminogen activator inhibitor type 1 -675 4G>5G, thrombin activatable fibrinolysis inhibitor Ala147Thr and 1,542C>G, beta-fibrinogen -455G>A, von Willebrand factor -1,051A>G, factor VII Arg353Gln, factor XIII Val34Leu, prothrombin 20,210G>A, tissue factor pathway inhibitor -287T>C, and methylenetetrahydrofolate reductase 1,298A>C. Specificity of each genotyping assay was confirmed by sequence-based typing and reproducibility was evaluated by repeated genotyping. The genotyping protocols presented here may serve as a valuable tool for clinical researchers interested in exploring associations between these SNPs and thrombotic disease.

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