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Related Experiment Videos

A rapid screening method for the factor V Arg506-->Gln mutation

S Gandrille1, M Alhenc-Gelas, M Aiach

  • 1INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|May 1, 1995
PubMed
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A new, rapid molecular method accurately detects the factor V 1691 G-->A mutation, a cause of thrombosis. This simple, inexpensive test offers results comparable to established denaturing gradient gel electrophoresis (DGGE) techniques.

Area of Science:

  • Molecular Biology
  • Genetics
  • Thrombosis Research

Background:

  • The 1691 G-->A nucleotide mutation in the factor V gene leads to the Arg506-->Gln substitution.
  • This mutation is a significant risk factor for unexplained thrombosis.
  • Accurate and efficient detection methods are crucial for patient diagnosis and management.

Purpose of the Study:

  • To compare a novel, rapid detection method for the factor V 1691 G-->A mutation against the established denaturing gradient gel electrophoresis (DGGE) technique.
  • To evaluate the clinical utility of the new method in patients with unexplained thrombosis.

Main Methods:

  • A cohort of 136 patients with unexplained thrombosis was studied.
  • A new method involving PCR amplification of factor V gene exon 10 was developed.

Related Experiment Videos

  • The new method utilizes a modified oligonucleotide to introduce a HindIII restriction site in mutated fragments.
  • Comparison was made with the established DGGE technique.

    • Main Results:

    • The novel method successfully detected the factor V 1691 G-->A mutation in all tested subjects.
    • Results from the rapid method were concordant with the DGGE method.
    • The new method demonstrated simplicity, speed, and cost-effectiveness.

    Conclusions:

    • The developed rapid method is a reliable and efficient alternative for detecting the factor V 1691 G-->A mutation.
    • This method provides accurate results comparable to DGGE.
    • Its simplicity and cost-effectiveness make it suitable for clinical application in thrombosis diagnostics.