The predictability of factor V Leiden (FV : Q(506)) gene mutation via clotting-based diagnosis of activated protein C resistance


Sayinalp N., Haznedaroglu I. , Aksu S., Buyukasik Y., Goker H., Parlak H., ...Daha Fazla

CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS, cilt.10, ss.265-270, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 10 Konu: 3
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1177/107602960401000309
  • Dergi Adı: CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS
  • Sayfa Sayıları: ss.265-270

Özet

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).