Hooper W Craig, De Staercke Christine
Hematologic Disease Branch, Division of AIDS, STD and TB Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, US Department of Health and Human Services, Atlanta, GA 30333, USA.
Expert Rev Mol Diagn. 2002 Nov;2(6):576-86. doi: 10.1586/14737159.2.6.576.
Venous thromboembolism is an hypercoagulable state that frequently reflects a complex interplay between inherited, acquired and environmental factors. The overall incidence of venous thromboembolism, which increases with age, is approximately 1:1000 in the US and Western Europe. In addition to known risk factors such as pregnancy and cancer, genetic variants can also increase the venous thromboembolism risk. Once such genetic variant, FV Leiden is characterized by single-point mutation and has been found in approximately 20% of idiopathic venous thromboembolism cases. The discovery of FV Leiden unleashed an increased interest in the genetics of venous thromboembolism as well as other cardiovascular diseases. Because FV Leiden was not only defined by only one common single nucleotide polymorphism but was also widely prevalent, impetus for the development of novel mutation detection methodologies and platforms for DNA analysis in both the clinical and research laboratory was greatly accelerated. An overview of this technology and its relationship to the genetics of venous thromboembolism is reviewed.
静脉血栓栓塞是一种高凝状态，常反映遗传、后天和环境因素之间的复杂相互作用。静脉血栓栓塞的总体发病率随年龄增长而增加，在美国和西欧约为1:1000。除了已知的风险因素如妊娠和癌症外，基因变异也会增加静脉血栓栓塞风险。一种这样的基因变异，即FⅤ莱顿突变，其特征为单点突变，在约20%的特发性静脉血栓栓塞病例中被发现。FⅤ莱顿突变的发现引发了人们对静脉血栓栓塞以及其他心血管疾病遗传学的更大兴趣。由于FⅤ莱顿突变不仅由一种常见的单核苷酸多态性所定义，而且广泛存在，这极大地加速了临床和研究实验室中新型突变检测方法及DNA分析平台的开发进程。本文综述了这项技术及其与静脉血栓栓塞遗传学的关系。
