Ardissino D, Peyvandi F, Merlini P A, Colombi E, Mannucci P M
Division of Cardiology, I.R.C.C.S., Policlinico San Matteo, Pavia, Italy.
Thromb Haemost. 1996 May;75(5):701-2.
Many young patients with venous thromboembolic disease are partially resistant to the anticoagulant action of activated protein C as a result of factor V (Arg 506 --> Gln) mutation. The frequency of this mutation in young patients with arterial thrombotic diseases, such as myocardial infarction, is less well established. We studied 100 young patients with myocardial infarction and 100 age- and sex-matched controls. One patient (1%; 95% CL 0.05-6.2) and two controls (2%; 95% CL 0.3-7.7) were heterozygotes for the mutation; there was no homozygote in either group. Hence, premature myocardial infarction is not associated with heterozygosity for factor V (Arg 506 --> Gln) mutation.
许多患有静脉血栓栓塞性疾病的年轻患者由于因子V（精氨酸506→谷氨酰胺）突变而对活化蛋白C的抗凝作用存在部分抵抗。这种突变在诸如心肌梗死等动脉血栓性疾病的年轻患者中的发生率尚不太明确。我们研究了100名患有心肌梗死的年轻患者以及100名年龄和性别匹配的对照者。一名患者（1%；95%可信区间0.05 - 6.2）和两名对照者（2%；95%可信区间0.3 - 7.7）为该突变的杂合子；两组中均无纯合子。因此，过早发生的心肌梗死与因子V（精氨酸506→谷氨酰胺）突变的杂合性无关。
