Bertina R M
Hemostasis and Thrombosis Research Center, Leiden University Medical Center, The Netherlands.
Clin Chem. 1997 Sep;43(9):1678-83.
Five genetic defects have been established as risk factors for venous thrombosis. Three are protein C, protein S, and antithrombin deficiencies, defects in the anticoagulant pathways of blood coagulation. Together they can be found in approximately 15% of families with inherited thrombophilia. Their laboratory diagnosis is hampered by the large genetic heterogeneity of these defects. The other two genetic risk factors, resistance to activated protein C associated with the factor V Leiden mutation and increased prothrombin associated with the prothrombin 20210 A allele, are much more prevalent and together can be found in 63% of the thrombophilia families. Because both defects are caused by a single mutation, DNA analysis is the basis of their laboratory diagnosis.
五种基因缺陷已被确认为静脉血栓形成的危险因素。三种是蛋白C、蛋白S和抗凝血酶缺乏，它们是血液凝固抗凝途径中的缺陷。在遗传性血栓形成倾向的家庭中，约15%的家庭可同时发现这三种缺陷。这些缺陷的巨大基因异质性阻碍了它们的实验室诊断。另外两个基因危险因素，即与因子V Leiden突变相关的活化蛋白C抵抗和与凝血酶原20210 A等位基因相关的凝血酶原增加，更为普遍，在63%的血栓形成倾向家庭中可同时发现。由于这两种缺陷都是由单一突变引起的，DNA分析是其实验室诊断的基础。
