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目的研究血浆型血小板活化因子乙酰水解酶(plateletactivatingfactoracetylhydrdase,PAFAH)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PAFAH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:32.35%(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PAFAH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。
Objective To investigate the relationship between the 994 (G → T) point mutation of plasma platelet activating factor acetyltransferase (PAFAH) gene and common types of cerebral infarction. Methods Polymerase chain reaction (PCR) was performed in 108 patients with cerebral infarction (divided into atherosclerotic cerebral infarction group, lacunar infarction group and cardio-cerebral infarction group) and 215 normal controls. Plasma PAFAH Gene The genotype frequency and allele frequency of this mutation. Results The genotype frequency of 994 (G → T) mutation in control group was 20.46% (heterozygote: 18.60%; homozygote: 1.86%). The frequency of the mutant genotype in all patients with cerebral infarction was 35.19% (heterozygous: 32.41%; homozygote: 2.78%), which was significantly higher than that in the control group (P <0.01). The frequency of the mutation in atherosclerotic cerebral infarction group The genotype frequency was 38.10% (heterozygous: 34.92%; homozygote: 3.18%), which was significantly different from the control group (P <0.01). The frequencies of the mutant genotypes in lacunar infarction and cardioembolic groups were 32.35% (heterozygotes: 29.41%; homozygotes: 2.94%) and 27.27% (heterozygotes: 27.27% 0). There was no significant difference compared with the control group (P> 0.05). Conclusions The 994 (G → T) T mutation of plasma PAFAH gene is significantly associated with the occurrence of cerebral infarction in Chinese. The correlation mainly comes from atherosclerotic cerebral infarction, but not with lacunar infarction.