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Martin J Hessner, Kenneth D Friedman, Karl V Voelkerding, Suzanne Huber, Daniel Ryan, Bonnie Nuccie, Marlies Ledford, Multisite Study for Genotyping of the Factor II (Prothrombin) G20210A Mutation by the Invader Assay, Clinical Chemistry, Volume 47, Issue 11, 1 November 2001, Pages 2048–2050, https://doi.org/10.1093/clinchem/47.11.2048
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The factor II (prothrombin) G20210A mutation (PT20210) is a recognized genetic risk factor for increased plasma prothrombin and venous thrombosis that is present in 6–7% of thrombosis patients and 1–2% of healthy individuals (1)(2)(3). The first occurrence of deep venous thrombosis is increased 1.4- to 5.6-fold in individuals carrying at least one mutant allele compared with the incidence in individuals without this mutation (4)(5).
In this report, we describe the novel application of the Factor II Invader® assay for the genotyping of patient specimens for the prothrombin G20210A mutation. The Invader assay is a sensitive, homogeneous, DNA-probe-based system for quantitatively detecting specific mutations directly from genomic DNA (6)(7)(8) as described previously by Hessner et al. (9) and Ledford et al. (10)
To evaluate the suitability of the Invader assay for detection of the prothrombin mutation, peripheral blood specimens from 528 patients (from four different sites) were collected in EDTA or sodium citrate tubes and genotyped. The four participating sites were (a) the University of Wisconsin Hospital and Clinics Molecular Pathology Laboratory (Madison, WI), (b) the Blood Center of Southeastern Wisconsin (Milwaukee, WI), (c) the University of Miami, Department of Pathology (Miami, FL), and (d) the University of Rochester, Department of Pathology and Molecular Laboratory (Rochester, NY).
