Kontula K, Ylikorkala A, Miettinen H, Vuorio A, Kauppinen-Mäkelin R, Hämäläinen L, Palomäki H, Kaste M
Second Department of Medicine, University of Helsinki, Finland.
Thromb Haemost. 1995 Apr;73(4):558-60.
The point mutation Arg506- > Gln of factor V was recently shown to be an important and relatively common genetic cause of venous thromboembolism. Using a DNA technique based on polymerase chain reaction, we surveyed the blood samples of 236 patients with ischaemic stroke or a transient ischaemic attack, 122 survivors of myocardial infarction and 137 control subjects for the presence of this mutation. Although the frequency of the factor V mutation in patients with arterial disease (4.5%) was not significantly different from that in healthy blood donors (2.9%), a carrier status for this mutant gene was associated with symptoms of migraine and relatively mild angiographic abnormalities among patients with cerebrovascular disease. A more extensive study addressing the occurrence and significance of the mutant factor V mutation in patients with vasospastic cerebrovascular diseases seems to be warranted.
凝血因子V的点突变Arg506→Gln最近被证明是静脉血栓栓塞一个重要且相对常见的遗传病因。我们采用基于聚合酶链反应的DNA技术，对236例缺血性中风或短暂性脑缺血发作患者、122例心肌梗死幸存者以及137名对照者的血样进行检测，以确定是否存在该突变。虽然动脉疾病患者中凝血因子V突变的发生率（4.5%）与健康献血者（2.9%）相比无显著差异，但在脑血管疾病患者中，该突变基因的携带状态与偏头痛症状及相对较轻的血管造影异常有关。开展一项关于血管痉挛性脑血管疾病患者中突变凝血因子V的发生情况及其意义的更广泛研究似乎很有必要。
