Abstract
Venous thrombosis is a common cardiovascular disease in Caucasians, affecting 1 out of 1000 individuals, and strongly associates with pulmonary embolism [1]. Genetic factors have been found to play a crucial role in disease development. Among these, mutations in the Factor V gene (FV Leiden) and in the prothrombin gene have been shown to account for a large number of thromboembolisms [2]. An additional independent risk factor is hyperhomocysteinemia. Increased plasma homocysteine is partly due to a thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) resulting from a C to T transition at nucleotide 677 (Ala222Val) and is implicated as a risk factor for vascular and thromboembolic disease and neural tube defects [3].
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© 2001 Springer-Verlag Berlin Heidelberg
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Aslanidis, C., Schmitz, G. (2001). High-Speed Methylenetetrahydrofolate Reductase C → T 677 Mutation Detection on the LightCycler. In: Meuer, S., Wittwer, C., Nakagawara, KI. (eds) Rapid Cycle Real-Time PCR. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59524-0_9
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DOI: https://doi.org/10.1007/978-3-642-59524-0_9
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-66736-0
Online ISBN: 978-3-642-59524-0
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