Venous thromboembolism is a pathological condition of multifactorial origin, including acquired and genetic causes. The point
mutations factor V Leiden and Prothrombin G20210A are the most frequent etiologies of hereditary thrombosis. To diagnose these
genetic defects in patients with venous thrombosis, the molecular biological technique of polymerase chain reaction - restriction
fragment length polymorphism (PCR-RFLP) is used. In this study, 565 exams for the detection of factor V Leiden were carried out
from February, 2001 through December, 2005, finding a prevalence of 6.19% (35 patients). This rate contradicts some studies
and agrees with others. In the same period, 557 exams for the detection of prothrombin G20210A were performed, finding a
prevalence of 6.1% (34 patients), a very similar value to the prevalence reported in the majority of the published clinical series.
Keywords:
Factor V, Protrombina, Trombosis de la Vena/fisiopatología
Venegas S., M. ., Conte L., G. ., & Cuneo V., M. . (2006). Detección de las Mutaciones Factor V Leiden y Protrombina G20210A en Pacientes con Trombosis Venosa. Revista Hospital Clínico Universidad De Chile, 17(2), pp. 141–7. https://doi.org/10.5354/2735-7996.2006.78353