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

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 p...

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Published inMolecular biology (New York) Vol. 51; no. 1; pp. 49 - 52
Main Authors Gvozdenov, M., Pruner, I., Tomic, B., Kovac, M., Radojkovic, D., Djordjevic, V.
Format Journal Article
LanguageEnglish
Published Moscow Pleiades Publishing 2017
Springer Nature B.V
Subjects
Biochemistry
Biomedical and Life Sciences
Blood clots
Blood diseases
Gene expression
Genomics. Transcriptomics
Human Genetics
Life Sciences
Mutation
FII c.1787G>A mutation, prothrombin Belgrade, prothrombin gene expression
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Summary: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.
Bibliography:ObjectType-Article-1
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ISSN:0026-8933
1608-3245
DOI:10.1134/S0026893316060078