attomol^® Factor II 20210G>A Quicktype

In the blood coagulation cascade, factor V forms a complex (prothrombin activator) together with activated factor X, phospholipids and calcium ions, which is able to convert prothrombin (factor II) into thrombin, which ultimately causes fibrin polymerization. The mutation 20210G>A is located in the 3'-UTR of the prothrombin gene and leads to increased expression [3]. This mutation causes an increased level of plasma prothrombin. The resulting accumulation of thrombin in the blood leads to an increased tendency to clot, which results in a higher risk of thrombosis in affected patients [2]. The risk of VTE (venous thromboembolism) is 2 to 4 times higher in heterozygous carriers of the allele (20210G>A) [2][4][5] and 5-fold higher in homozygous carriers compared to carriers of the wild-type allele [5]. Prothrombin testing is recommended in the following cases: first VTE at a young age (<50 years), recurrent VTE, VTE at unusual sites such as cerebral, mesenteric, portal or hepatic veins, VTE during pregnancy, VTE associated with oestrogen-containing oral contraceptives or hormone replacement therapy, VTE in patients with first-degree relatives who have developed VTE at an age <50 years [7].
The AWMF guidelines from 2023 consider genetic diagnostics to be useful if it can change the therapeutic approach or prevent a recurrence of the thromboembolic disease [6]. Genetic testing is not recommended as screening, among other reasons [7]. Healthy individuals should not be tested, as the consequences are unclear and fear and uncertainty can be generated [6].

Prevalence
The factor II 20210 mutation is one of the most important congenital risk factors for thrombosis with a prevalence of approx. 1-3 % in the European and US population [1][2][7]. In Asia, Africa and among Native Americans, the mutation occurs very rarely. Within Europe, the prevalence appears to be higher in Southern Europe (3 %) than in Northern Europe (1.7 %) [7].

[1] Khan S. et al.: Hereditary thrombophilia. Thrombosis Journal 2006, 4, 15.
[2] Poort S. R. et al.: A common genetic variation in the 3´-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996, 88:3698-3703.
[3] Ceelie H. et al.: G20210A is a functional mutation in the prothrombin gene; effect on protein levels and 3'-end formation. J Thromb Haemost. 2004, 2(1):119-27.
[4] Brown K. et al.: Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3´-untranslated region of the prothrombin gene. Br J Haematol 1997, 98:907-909.
[5] Shemesh et. al.: Clinical significance of prothrombin G20210A mutation in homozygous patients. Am J Hematol 2017, 92, 10:618-620.
[6] Gesellschaft für Angiologie - Gesellschaft für Gefäßmedizin: Diagnostik und Therapie der Venenthrombose und der Lungenembolie. AWMF, 2023, Leitlinien-Register Nr. 065/002, Klasse S2k.
[7] Kujovich: Prothrombin Thrombophilia. 2006 [updated 2021]. In: Adam M. P. et al., editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

• PCR-H₂O
• PCR-buffer
• Primer Factor II 20210G>A
• instructions for use

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