Altinisik Julide, Ates Omer, Ulutin Turgut, Cengiz Mujgan, Buyru Nur
Department of Medical Biology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
Clin Appl Thromb Hemost. 2008 Oct;14(4):415-20. doi: 10.1177/1076029607306404. Epub 2007 Dec 26.
Several inherited polymorphisms are associated with risk of venous thrombosis, including mutation at codon 506 of the factor V gene, mutation at position 20210 of the prothrombin gene, and mutations in the protein C gene. In this study, genotyping for factor V, prothrombin, and protein C mutations was performed in 50 patients and 25 control subjects by polymerase chain reaction-based analysis. The prevalence of factor V and prothrombin mutations was not significantly different from that in the general population. Nine of the patients had heterozygous protein C mutation. There was a high prevalence of the mutated protein C allele in the pulmonary emboli group (42.8%). Protein C mutation incidence was higher in the pulmonary emboli group than in the deep vein thrombosis (8.33%) and cerebral vein thrombosis (16.1%) groups. These results indicate that patients with protein C deficiency have a greater risk of thrombosis than patients with factor V or prothrombin G20210A mutation.
几种遗传多态性与静脉血栓形成风险相关，包括凝血因子V基因第506密码子突变、凝血酶原基因第20210位突变以及蛋白C基因的突变。在本研究中，通过基于聚合酶链反应的分析，对50例患者和25例对照受试者进行了凝血因子V、凝血酶原和蛋白C突变的基因分型。凝血因子V和凝血酶原突变的患病率与一般人群无显著差异。9例患者存在杂合子蛋白C突变。肺栓塞组中突变的蛋白C等位基因患病率较高（42.8%）。肺栓塞组的蛋白C突变发生率高于深静脉血栓形成组（8.33%）和脑静脉血栓形成组（16.1%）。这些结果表明，与凝血因子V或凝血酶原G20210A突变患者相比，蛋白C缺乏患者发生血栓形成的风险更大。
