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Vol 51(2017) N 1 p. 49-52; DOI 10.1134/S0026893316060078 Full Text

M. Gvozdenov1*, I. Pruner1, B. Tomic1, M. Kovac2,3, D. Radojkovic1, V. Djordjevic1

The effect of FII c.1787G>A (prothrombin Belgrade) mutation on prothrombin gene expression in vitro

1Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia
2Faculty of Medicine, University of Belgrade, Serbia
3Blood Transfusion Institute of Serbia, Hemostasis Department, Belgrade, Serbia

*majagvozdenov@yahoo.com
Received - 2016-01-27; Accepted - 2016-02-24

The FII c.1787G>A (prothrombin Belgrade) is a novel prothrombotic mutation which leads to impaired inhibition of thrombin by antithrombin (antithrombin resistance). So far, the mechanism of this variant has not been fully elucidated. To investigate the effect of FII c.1787G>A mutation on the prothrombin gene expression, its functional analysis was performed in vitro. By Real-Time PCR, expression levels of FII gene variants were evaluated in Cos-7 cells transiently transfected with c.1787G (wild-type) and c.1787A prothrombin expression vectors, with no differences observed. The relative quantification of prothrombin protein amounts was accomplished by Western blot analysis, also with no differences observed. Therefore, the mechanism of FII c.1787G>A mutation does not alter prothrombin expression profile.

FII c.1787G>A mutation, prothrombin Belgrade, prothrombin gene expression



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