The Predictability of Factor V Leiden (FV:Q506) Gene Mutation via Clotting-Based Diagnosis of Activated Protein C Resistance
| Autor: | Nilgun Sayinalp, Salih Aksu, Serafettin Kirazli, Hülya Parlak, Yahya Buyukasik, O.I. Özcebe, I.C. Haznedaroğlu, Semra Dündar, Aytemiz Gurgey, Hakan Goker |
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| Rok vydání: | 2004 |
| Předmět: |
Genotype
Homozygous Factor V Leiden mutation DNA Mutational Analysis 030204 cardiovascular system & hematology Gene mutation Thrombophilia Polymerase Chain Reaction Sensitivity and Specificity 03 medical and health sciences 0302 clinical medicine Predictive Value of Tests Crotalid Venoms medicine Factor V Leiden Humans Genetic Testing Activated Protein C Resistance Heterozygous mutation biology business.industry Factor V Hematology General Medicine medicine.disease Molecular biology 030220 oncology & carcinogenesis Factor X biology.protein Partial Thromboplastin Time Factor V Leiden mutation Activated protein C resistance business Polymorphism Restriction Fragment Length |
| Zdroj: | Clinical and Applied Thrombosis/Hemostasis. 10:265-270 |
| ISSN: | 1938-2723 1076-0296 |
| DOI: | 10.1177/107602960401000309 |
| Popis: | 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:Q506 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 (p506. |
| Databáze: | OpenAIRE |
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