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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
Two multiplex PCR-based DNA assays for the thrombosis risk factors prothrombin G20210A and coagulation factor V
1Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA.
Thrombosis Research
|March 27, 1999
Summary
Genetic factors like factor V G1691A and prothrombin G20210A increase venous thrombosis risk. New multiplex PCR methods simultaneously detect these common genetic variants, revealing their variability in affected families.
Area of Science:
- Genetics
- Molecular Biology
- Thrombosis Research
Background:
- Factor V G1691A and prothrombin G20210A gene polymorphisms are key genetic risk factors for venous thrombosis in Caucasians.
- Simultaneous detection of these common polymorphisms is crucial for risk assessment.
Purpose of the Study:
- To develop and validate novel multiplex PCR-based DNA assays for simultaneous determination of factor V G1691A and prothrombin G20210A polymorphisms.
- To analyze the variability of these genetic risk factors within a family with a history of venous thrombosis.
Main Methods:
- Development of PCR-based DNA assays utilizing Hind III and Sac I restriction digestion.
- Establishment of novel PCR primers introducing specific cleavage sequences for Sac I analysis.
- Application of multiplex PCR assays to a family cohort.
Main Results:
- Successful simultaneous determination of both factor V G1691A and prothrombin G20210A polymorphisms was achieved using the developed assays.
- The study confirmed significant variability in the presence and expression of these genetic risk factors among symptomatic family members.
Conclusions:
- Novel multiplex PCR assays provide an efficient method for simultaneous detection of common thrombotic risk factor gene polymorphisms.
- Understanding the familial variability of these polymorphisms is important for clinical risk stratification in venous thrombosis.

