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The 3' end prothrombin gene variants in serbian patients with idiopathic thrombophilia

M Aradjanski1, V Djordjevic1, I Pruner1

  • 1Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

Balkan Journal of Medical Genetics : BJMG
|May 5, 2015
PubMed

Insights

Investigating the prothrombin (FII) gene

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Thrombophilia is a complex disorder with both genetic and acquired risk factors.
  • Idiopathic thrombophilia, where the cause remains unknown, presents a challenge in understanding disease etiology.
  • The 3' end of the prothrombin (FII) gene is a potential site for gain-of-function mutations.

Purpose of the Study:

  • To screen the 3' end of the prothrombin (FII) gene for variants in patients with idiopathic thrombophilia.
  • To assess the role of identified gene variants in the pathogenesis of thrombophilia.

Main Methods:

  • DNA sequencing was used to analyze a 715 bp region at the 3' end of the FII gene.
  • The study included 100 patients with idiopathic thrombophilia and 100 healthy controls.

Main Results:

  • Two variants, A19911G and C20068T, were detected in the prothrombin gene.
  • The A19911G variant showed no statistically significant difference in frequency between patients and controls.
  • The C20068T variant was more frequent in patients (4.0%) than controls (1.0%), but this difference was not statistically significant.

Conclusions:

  • The A19911G variant is unlikely to be a significant risk factor for idiopathic thrombophilia.
  • The C20068T variant may represent a potential risk factor, warranting further investigation.
  • Larger cohort studies are needed to confirm these findings and establish the role of FII gene variants in thrombophilia.

Keywords:
3′ End prothrombin (FII) geneGene variantsThrombophilia

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