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Updated: Aug 10, 2026
13:08
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
Vínculo entre la resistencia hereditaria a la proteína C activada y la mutación del gen del factor V en la trombosis
1Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
Lancet (London, England)
|June 18, 1994
Resumen
La resistencia a la proteína C activada (APC), una causa de trombofilia familiar, está fuertemente relacionada con el gen del factor V. Una mutación específica en este gen se identifica como la causa genética más común de la trombofilia.
Área de la Ciencia:
- Genética La genética.
- Hematología Hematología.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La resistencia a la proteína C activada (APC) es un factor de riesgo significativo para la trombofilia familiar.
- La actividad anticoagulante del factor V purificado puede corregir la resistencia a la APC.
Objetivo del estudio:
- Investigar el vínculo genético entre la resistencia a la APC y el gen del factor V en una familia con trombofilia.
- Para identificar la mutación genética específica responsable de la resistencia a la APC.
Principales métodos:
- Análisis de los polimorfismos de longitud del fragmento de restricción en el exón 13 del gen del factor V.
- Análisis de vínculo genético en 14 miembros de la familia.
- Secuenciación del ADN para identificar mutaciones puntuales.
Principales resultados:
- Se observó una vinculación del 100% entre el polimorfismo del gen del factor V y la resistencia a la APC.
- Se identificó una mutación puntual específica (Arg506Gln) en el sitio de escisión APC del factor V en individuos afectados.
- Esta mutación se encontró en todos los individuos resistentes al APC dentro de la familia.
Conclusiones:
- La mutación del gen del factor V está fuertemente asociada con la resistencia a la APC y la trombofilia familiar.
- Esta mutación genética específica del factor V es probablemente la causa genética más común de la trombofilia.
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