血小板活化因子乙酰水解酶基因突变(Val279-Phe)与急性脑出血的相关性研究

Study of the Correlation Between the Mutation in the Gene (Val279-Phe) of Platelet-activating Factor (PAF) Acetylhydrolase and Acute Cerebral Hemorrhage

目的 探讨血小板活化因子乙酰水解酶基因突变 (Val2 79-Phe)与急性脑出血的关系。方法 对 10 2例急性脑出血患者、174例原发性高血压患者及 2 2 5例健康对照者 ,分别用多聚酶链式反应分析基因组DNA的突变等位基因 ,用Stafforini等的方法测定血浆PAF乙酰水解酶的活性。结果 脑出血组突变的发生率 (4 7.1% )显著高于对照组 (P <0 .0 1)。高血压组突变的发生率(32 .7% )与对照组 (2 4 .4 % )之间无显著差异 (P >0 .0 5 )。结论 血浆中血小板活化因子乙酰水解酶基因突变所致的酶缺乏可能是急性脑出血的独立危险因素。

Objective To investigate the correlation between the mutation of plasma platelet-activating factor (PAF) acetylhydrolase and acute cerebral hemorrhage. Methods Genomic DNA was analyzed for the mutation allele in 112 patients with hypertension, 68 patients with acute cerebral hemorrhage, and 150 healthy controls by the polymerase-chain reaction. The activity of PAF acetylhydrolase were determined. Results The rate of the mutation was 24.4% in controls and 32.7% in hypertension patients and the difference was not significant (P>0.05). The rate in patients with acute cerebral hemorrhage was significantly higher than that in the controls (P<0.01). Conclusions PAF acetylhydrolase deficiency caused by the mutation in the gene may be a genetic risk factor for acute cerebral hemorrhage.