Analysis of 994(G--> T) mutation in the plasma platelet-activating factor acetylhydrolase gene in the patients with cerebral infarction / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>