Rijksuniversiteit Leiden

Other

Akzo Nobel N.v.

Biomerieux, Inc.

Rogier Maria Bertina

Pieter Hendrik Reitsma

Bonno Nammen Bouma

Shirley Uitte De Willige

Hans Luuk Vos

Frits R Rosendaal

Maria Catharina Henrica De Visser-van Soest

The present invention relates to a method for screening an individual for the presence in his/her genome of a genetic marker that is indicative of an increased risk of deep venous thrombosis, wherein the genetic marker is haplotype 2 of the fibrinogen &#x3b3; gene (FGG-H2) as given in FIG.A. The genetic marker comprises a set of one, two, three or four mutations in the nucleic acid material encoding fibrinogen &#x3b3;, the mutations being selected from the group consisting of 129A/T (rs2066854), 7874G/A (rs20668&#x3b2;1), 9615'C/T (rs2066864) and 10034C/T (rs2066865).

Method of screening for the presence of a genetic defect associated with deep venous thrombosis

Method for screening for the presence of a genetic defect associated with thrombosis and/or poor anticoagulant response to activated protein C (APC). The method is directed at detecting one or more mutations at one or more of the cleavage and/or binding sites for APC of Factor V and/or Factor Va or at Factor VIII and/or Factor VIIIa at either nucleic acid or protein level or both.

Method for screening for the presence of genetic defect associated with thrombosis and/or poor anticoagulant response to activated protein C

Method for diagnosing an increased risk for thrombosis or a genetic defect causing thrombosis and kit for use with the same

Method for screening for the presence of a genetic defect associated

Method for diagnosing an increased risk for thrombosis or a genetic

The present invention relates to various functional variants of recombinant protein S (PS) that do not significantly bind C4b binding protein (C4BP) and uses of the variants as a therapeutic reagent. In particular the invention is directed at deletion mutants of protein S, having cofactor activity toward APC and lacking at least the two postulated C4BP binding domains of the SHBG-like domain of the corresponding mature wild type protein S. Such a deletion mutant in particular lacks at least amino acid residues 401-457 and 583-635 of the corresponding mature wild type human protein S.

Protein S deletion variants deficient in C4BP binding activity, but

Protein S deletion variants deficient in C4BP binding activity but

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Leiden, Netherlands

Rogier Maria Bertina