凝血因子V Leiden基因突变和凝血酶原基因20210突变

凝血因子V和凝血酶原为凝血因子，凝血因子是由肝脏生成的蛋白，在血管受到损伤时，级联激活，从而在损伤部位形成凝血块，以在伤口愈合前防止血液的流失。

凝血因子VLeiden是指凝血因子V基因的一个位点发生突变，使编码蛋白的密码子发生改变，致使所编码的凝血因子V虽可正常激活，但对APC产生抵抗，导致血液中凝血酶含量增高，患有VTE的风险增大。

PT20210也是由于基因位点突变所产生的凝血酶原的变异体，也是VTE形成的高危因素。

在美国，凝血因子V Leiden基因突变是异常血栓形成的主要原因，在高加索人群中其相关率可达5%。凝血因子VLeiden基因突变可为杂合子突变(等位基因中只有一个发生突变，另一个正常)，也可为纯合子突变(等位基因军均发生突变，这种情况比较罕见)，杂合体突变静脉血栓形成的危险较正常人高3-8倍，而纯合子突变则高达50-80倍。

相同的，PT20210也分为杂合子突变和纯合子突变，发生突变的患者体内凝血酶水平增高，使静脉血栓形成的危险增大。PT20210较凝血因子VLeiden少见，其在高加索人群中比其他种族人群较为普遍。

凝血因子V Leiden和PT20210为相互独立的突变，要分别进行检测。检测时应检查是否存在基因突变，若存在突变，则应检测其为杂合子突变还是纯合子突变。

自肘静脉采集血液样本。

不需要任何试验前准备。

检验: 凝血因子
疾病: 高凝疾病

University of Illinois - Urbana/Champaign, Carle Cancer Center: Hematology Resource Page, Patient Resources
GENEReviews: Factor V Leiden Thrombophilia
GENEReviews: Prothrombin Thrombophilia

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