Vos H L
Haemostasis and Thrombosis Research Center, Department of Haematology C2R-139, Leiden University Medical Center.
J Thromb Haemost. 2006 Jan;4(1):35-40. doi: 10.1111/j.1538-7836.2005.01572.x. Epub 2005 Oct 25.
DNA variations in the Factor V gene have played a major role in thrombosis research ever since the discovery of Factor V Leiden. Here, all relatively common DNA variations in the coding regions of the Factor V gene are discussed. Many of them have been associated with venous thrombosis or related diseases. However, most variations have been studied separately, without taking the presence of other variations in the same gene into account. This means that their association with disease should be interpreted with caution, as it may reflect linkage with another variation. An approach in which a haplotype-based analysis of the Factor V gene is combined with in vitro assays of recombinant proteins is advocated. Finally, a possible reason for the relatively polymorphic nature of the Factor V protein is discussed.
自发现因子V莱顿突变以来，因子V基因中的DNA变异在血栓形成研究中发挥了重要作用。本文讨论了因子V基因编码区所有相对常见的DNA变异。其中许多变异与静脉血栓形成或相关疾病有关。然而，大多数变异都是单独研究的，没有考虑同一基因中其他变异的存在。这意味着它们与疾病的关联应谨慎解释，因为这可能反映了与另一个变异的连锁关系。本文提倡将基于单倍型的因子V基因分析与重组蛋白的体外检测相结合的方法。最后，讨论了因子V蛋白相对多态性的可能原因。
