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prothrombin gene
A mutation in the 3' untranslated region of the gene is associated with elevated plasma levels of prothrombin & increased rates of venous thromboembolism, including:
1) deep vein thrombosis
2) portal vein thrombosis
3) cerebral vein thrombosis The mutation is also associated with acute myocardial infarction in women who have other risk factors for arterial vascular disease (smoking, hyperlipidemia, hypertension).
Epidemiology: (of 3' mutation)
1) present in 2% of normal individuals
2) 6% of patients with 1st deep vein thrombosis (DVT)
3) 15-18% of patients with recurrent thromboembolism
4) 2nd most common cause of hypercoagulability, 20% of cases
5) 40% also harbor factor V Leiden mutation
Related
deep vein thrombosis (DVT)
prothrombin; coagulation factor II; contains: activation peptide fragment 1; activation peptide fragment 2; thrombin light chain; thrombin heavy chain (F2)
thromboembolism
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: prothrombin
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM correlations
MORBIDMAP 176930
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998
- Veterans Administration