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Prothrombin C20209T mutation in deep vein thrombosis: a case report
Mariela Muñoz1, Cristian Vilos2, Mario Cantín3
1School of Medical Technology, Faculty of Health Sciences, Universidad Santo Tomás Temuco, Chile ; Fellow Researcher, Universidad Científica del Sur Lima, Perú
International Journal of Clinical and Experimental Medicine
|September 18, 2015
Summary
This study reports the first case of the atypical prothrombin C20209T mutation in Chile, identified in a patient with deep vein thrombosis. The real-time polymerase chain reaction (PCR) method enabled detection of this thrombophilia risk factor.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Thrombophilias are established risk factors for thrombotic events.
- The prothrombin G20210A gene mutation is frequently screened using polymerase chain reaction (PCR).
- Real-time PCR with melting curve analysis allows detection of multiple prothrombin gene mutations in the 3'UTR.
