title: The predictability of factor V Leiden (FV:Q(506)) gene mutation via clotting-based diagnosis of activated protein C resistance.
abstract: After the discovery of activated protein C resistance (APCR) due to factor V Leiden mutation and the causal relationship of the phenomenon with clinical thromboembolism, a wide variety of functional clotting-based assays were developed for testing of APCR in relation to the specific DNA-based analysis of FV:Q(506) Leiden. The aim of this study is to assess a clotting-based APCR assay using procoagulant crotalidae snake venom with respect to the sensitivity, specificity, and predictability for the presence of the factor V Leiden mutation. APCR testing and factor V DNA analyses have been performed concurrently on 319 patient specimens. APCR values of the patients with homozygous factor V Leiden mutation (70.4+/-13.5 s) were significantly lower (p<0.001) in comparison to the subjects with the heterozygous mutation (87.6+/-13.4 s). The assay is highly sensitive (98.7%) and specific (91.9%) for the screening of factor V Leiden mutation. The sensitivity and specificity of the APCR testing reached to 100% below the cut-off value of 120 s among the patients with homozygous factor V Leiden mutation. Therefore, this method could help the desired effective optimal screening strategy for the laboratory search of hereditary thrombophilia focusing on the diagnosis of APCR due to FV:Q(506).
authors.affiliation: Hacettepe University Medical School, Department of Hematology, Ankara, Turkey. nsayinal@hacettepe.edu.tr
authors.forename: N
authors.initials: N
authors.lastname: Sayinalp
authors.forename: I C
authors.initials: IC
authors.lastname: Haznedaroğlu
authors.forename: S
authors.initials: S
authors.lastname: Aksu
authors.forename: Y
authors.initials: Y
authors.lastname: Büyükaşik
authors.forename: H
authors.initials: H
authors.lastname: Göker
authors.forename: H
authors.initials: H
authors.lastname: Parlak
authors.forename: O I
authors.initials: OI
authors.lastname: Ozcebe
authors.forename: S
authors.initials: S
authors.lastname: Kirazli
authors.forename: S V
authors.initials: SV
authors.lastname: Dündar
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
mesh_terms: D020016:Activated Protein C Resistance / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D003435:Crotalid Venoms / Q000494:pharmacology; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005170:Factor X / Q000187:drug effects; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D010314:Partial Thromboplastin Time; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity
chemical_list: D003435:Crotalid Venoms; C095381:factor V Leiden; D005165:Factor V; D005170:Factor X