Press R D, Liu X Y, Beamer N, Coull B M
Department of Pathology, Oregon Health Sciences University, Portland 97201-3098, USA.
Stroke. 1996 Jan;27(1):44-8. doi: 10.1161/01.str.27.1.44.
A common missense mutation in coagulation factor V (Arg 506 Gln) creates phenotypic resistance to the anticoagulant effects of activated protein C and predisposes carriers to venous thrombosis. To assess a correlation between this common hypercoagulable state and ischemic cerebrovascular disease, we have compared the prevalence of this mutation in a group of stroke patients with that in several control patient groups.
The presence of the factor V Arg 506 Gln mutation was determined by a direct polymerase chain reaction-based assay on peripheral blood leukocytes from 161 elderly patients with acute ischemic stroke, 116 elderly patients with stroke risk factors but without acute stroke, 54 healthy elderly control subjects, and 287 younger control individuals (197 blood donors and 90 neonates).
The prevalence of the heterozygous Arg 506 Gln factor V mutation was not significantly different in the elderly stroke patients (2.5%) compared with either of the age-matched control groups (2% to 4%). The prevalence of this mutation was significantly higher in each of two younger control groups (approximately 8%) than in the elderly stroke patients (2.5%).
The common factor V Arg 506 Gln mutation predisposing to venous thrombosis is not a significant genetic risk factor for ischemic stroke in the elderly.
凝血因子V的一种常见错义突变（精氨酸506谷氨酰胺）导致对活化蛋白C的抗凝作用产生表型抵抗，并使携带者易患静脉血栓形成。为了评估这种常见的高凝状态与缺血性脑血管疾病之间的相关性，我们比较了一组中风患者与几个对照患者组中这种突变的患病率。
采用基于聚合酶链反应的直接检测法，对161例急性缺血性中风老年患者、116例有中风危险因素但无急性中风的老年患者、54例健康老年对照者和287例年轻对照者（197例献血者和90例新生儿）外周血白细胞中的凝血因子V精氨酸506谷氨酰胺突变进行检测。
老年中风患者中杂合子精氨酸506谷氨酰胺凝血因子V突变的患病率（2.5%）与两个年龄匹配的对照组（2%至4%）相比无显著差异。该突变在两个年轻对照组中的患病率（约8%）均显著高于老年中风患者（2.5%）。
易导致静脉血栓形成的常见凝血因子V精氨酸506谷氨酰胺突变不是老年缺血性中风的重要遗传危险因素。
