血小板活化因子乙酰水解酶基因994(G→T)突变与脑梗塞的关联性

目的 研究血浆型血小板活化因子乙酰水解酶（platelet-activating factor-acetylhydrdase，PAF-AH）基因994（G→T）点突变与脑梗塞常见类型的相关性。方法 应用聚合酶链反应技术，检测108例脑梗塞患者（分为动脉粥样硬化性脑梗塞组、腔隙性脑梗塞组和心源性脑梗塞组）和215名正常对照中，血浆型PAF-AH基因该突变的基因型频率和等位基因频率。结果 对照组994（G→T）突变的基因型频率为20．46％（杂合子：18．60％；纯合子：1．86％）。全部脑梗塞患者人群中，突变基因型频率为35．19％（杂合子：32．41％；纯合子：2．78％），明显高于对照组（P〈0．01）；其中动脉粥样硬化性脑梗塞组该突变基因型频率为38．10％（杂合子：34．92％；纯合子：3．18％），与对照组相比差异有统计学意义（P〈0．01）。腔隙性脑梗塞组和心源性脑梗塞组的该突变基因型频率分别为t32．35％（杂合子：29．41％；纯合子：2．94％）和27．27％（杂合子：27．27％；纯合子：0）；与对照组比较差异无统计学意义（P〉0．05）。结论 血浆型PAF-AH基因994（G→T）T点突变与中国人脑梗塞的发生显著相关，其相关性主要来源于动脉粥样硬化性脑梗塞。而与腔隙性脑梗塞可能无明显关联。

Analysis of 994(G→T )mutation in the plasma platelet-activating factor acetylhydrolase gene in the patients with cerebral infarction

OBJECTIVE: To investigate the relationship between plasma platelet-activating factor acetylhydrolase (PAF-AH) gene 994(G--> T) mutation in exon 9 and the patients with cerebral infarction in Chinese Hans. METHODS: The authors conducted a case-control study including 108 patients in three groups (atherosclerotic cerebral infarction group, lacunar infarction group and cerebral embolism group) and 215 normal subjects as controls. Genomic DNA was analyzed for the mutant allele by a specific polymerase chain reaction. RESULTS: The frequency of the mutant genotype in the 102 patients with cerebral infarction was 35.19%(32.41% heterozygotes and 2.78% homozygotes), and was 38.10%(34.92% heterozygotes and 3.18% homozygotes) in the atherosclerotic cerebral infarction group, being all significantly higher than the control group's 20.46% (18.60% heterozygotes and 1.86% homozygotes)(P< 0.01); however, the frequencies of the mutant genotype in the lacunar infarction group and cerebral embolism group were 32.35% (29.41% heterozygotes and 2.94% homozygotes) and 27.27% (27.27% heterozygotes and 0 homozygotes) respectively, being not statistically different from those of the controls (P> 0.05). CONCLUSION: These findings show that the 994(G--> T) mutation of plasma PAF-AH gene may be an independent risk for atherosclerotic cerebral infarction, but not for lacunar infarction.