脑梗死患者血浆型血小板活化因子乙酰水解酶基因9号外显子突变的研究

Study on the mutation of plasma platelet activating factor(PAF) acetylhydrolase gene exon 9 in patients with cerebral infarction

目的研究血浆型血小板活化因子乙酰水解酶(PAF-AH)基因9号外显子突变与动脉硬化性脑梗死(ACI)的关系。方法应用多聚酶链反应(PCR)及变性高效液相色谱(DHPLC),分析150例ACI患者[ACI组(其中分进展组50例,无进展组100例)]和100例健康体检者(对照组)血浆型PAF-AH 9号外显子基因型及突变等位基因频率。结果ACI组血浆型PAF-AH 9号外显子突变(VaL279Phe)基因型及突变等位基因的频率高于对照组,差异有显著性(P<0.05);伴不同危险因素ACI患者基因突变的差异无显著性(P>0.05)。结论ACI患者血浆型PAF-AH基因9号外显子突变基因型及突变等位基因显著增高。

Objective To study the correlation between the mutation of plasma platelet activating factor （PAF） acetylhydrolase gene exon 9 and arteriosclerotic cerebral infarction （ACI）. Methods Genomic DNA for the mutation genotype and allele was analyzed in 150 patients with ACI （including 50 patients with progressive ACI） and 100 healthy subjects matched for age and sex by polymerase chain reaction and DHPLC. Results The prevalence of the mutation genotype and the frequency of the mutation allele were significantly higher in patients with ACI than in the controls （ P 〈 0.05）. The differences in mutation were not significant between ACI patients with different risk factors （ P 〉 0.05）. Conclusion The prevalence of the mutation genotype and the mutation allele of PAF-AH exon 9 in patients with ACI is significantly increased.