attomol^® FSAP Marburg I Quicktype

The assay attomol^® FSAP Marburg I Quicktype is used for the supportive diagnosis of thrombophilia. This test can be used to determine the Marburg polymorphism in the human FSAP gene (rs7080536). It is a manual, qualitative assay using an allel-specific PCR with integrated probe hybridisation. The evaluation takes place by agarose gel electrophoresis, which can be carried out manually or automatically. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

Factor VII activating protease (FSAP) is a serine protease which fulfils two important functions in the system of haemostasis. On the one side it activates factor VII to factor VIIa and thus starts the plasmatic coagulation of the  blood.  On  the  other  side,  it  is  also  an  activator  for  certain  plasminogen  activators  and  thus  plays  an important role in the fibrinolysis, the reversal process of coagulation. A defect in the FSAP gene is known as Marburg I polymorphism. This polymorphism is characterised through an exchange of guanine against adenine in position 1601 (1601G>A) of the FSAP gene. On the protein level, this leads to an amino acid exchange from Gly to Glu in position 511 (G511E) of the mature protein or in codon 534 (G534E) of the FSAP-proenzyme. This defect may lead to insufficient activation of plasminogenactivators.  Especially  in  combination  with  other  risk  factors,  may  result  in  an  increased  predisposition  forthrombotic  events  [Hoppe et al., 2005 Blood, 105(4):1549-51; van Minkelen et al., 2005, Blood, 105(12):4898; author reply 4899].  Furthermore,  the  Marburg  I  polymorphism  was  identified  as  a  risk  factor  for  the formation of cardiovascular diseases like stenosis or restenosis [Willeit et al., 2003 Circulation, 107:667-670]. In the Caucasian population the allele frequency for this polymorphism is approximately 5 % [Tag et al., 2008, The Open Clinical Chemistry Journal, 1: 42-46].

• PCR-H₂O
• PCR-premix FSAP Marburg I
• instructions for use

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