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Related Experiment Videos

An alternative method for identifying the factor V gene Leiden mutation

K Lewandowski1, M Rozek, K Zawilska

  • 1Department of Haematology, Karol Marcinkowski University of Medical Sciences, Poznań, Poland.

Thrombosis Research
|January 15, 1997
PubMed
Summary

A new DNA test accurately detects the Factor V Leiden mutation, a cause of APC-resistance. This simple and affordable assay improves upon existing screening methods for genetic risk assessment.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Activated protein C (APC)-resistance is linked to a specific point mutation in the factor V gene (nucleotide 1691).
  • Current APC-resistance tests are sensitive and specific but a simpler, cheaper DNA-based assay is needed.

Purpose of the Study:

  • To develop and evaluate simple, cheap, and accurate DNA-based assays for detecting the Factor V Leiden mutation (1691G>A).
  • To compare the efficacy of different allele-specific oligonucleotide PCR (ASO-PCR) methods.

Main Methods:

  • Two ASO-PCR methods were employed using specific primers targeting the 1691G (normal) and 1691A (mutant) alleles.
  • One method used direct primers (FV G1/FV A1), while the second utilized primers with a T-->G mismatch at the 3'-end (FV G2/FV A2).

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  • A T-->A mismatched primer was also tested for comparison.

    • Main Results:

    • The T-->G mismatched primers (FV G2/FV A2) demonstrated superior discrimination between the three factor V 1691 genotypes (homozygous normal, heterozygous, homozygous mutant) compared to T-->A mismatched primers.
    • The developed ASO-PCR methods allow for clear distinctions between genotypes.

    Conclusions:

    • The novel ASO-PCR method using T-->G mismatched oligonucleotides is recommended for screening the 1691G>A nucleotide mutation in the factor V gene.
    • This method offers a simple, cheap, and accurate alternative for detecting Factor V Leiden mutation.