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子痫前期患者PAF-AH基因Ala379Val位点多态性的研究

The Ala379Val Polymorphism of Platelet-activating Factor Acetylhydrolase Gene in Chinese Patients withPre-eclampsia

  • 摘要: 目的 研究血小板活化因子乙酰水解酶基因(PAF-AH)Ala379Val位点多态性是否与子痫前期(PE)发病有关。方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对成都地区210例PE患者和382例正常孕妇的PAF-AH基因Ala379Val位点多态性进行分析;以血小板活化因子(PAF)为底物, 3 H-PAF为示踪剂,采用三氯乙酸沉淀法测定血浆PAF-AH、高密度脂蛋白(HDL)结合PAF-AH(H-PAF-AH)和低密度脂蛋白(LDL)结合PAF-AH(L-PAF-AH)活性。 结果 PAF-AH基因Ala379Val位点AA、AV、VV基因型和A、V等位基因频率在PE患者和正常孕妇组之间差异无统计学意义(P>0.05)。然而,与携带AA基因型的PE患者比较,携带V等位基因的PE患者有更高的体质量指数(BMI)、L-PAF-AH/H-PAF-AH活性比值(P<0.05),更低的H-PAF-AH活性(P<0.05)。结论 未发现PAF-AH基因Ala379Val位点多态性与成都地区PE发病存在关联性,但该位点V等位基因变异可能与PE孕妇BMI增加、血浆PAF-AH活性在脂蛋白中的分布异常有关。

     

    Abstract: Objective To investigate the relationship between the Ala379Val polymorphism of the platelet-activating factor acetylhydrolase gene (PAF-AH) and pre-eclampsia (PE) in Chinese pregnant women. Methods A total of 592 subjects (210 patients with PE and 382 healthy pregnant women) in Chengdu area were included in this study. The Ala379Val polymorphism of the PAF-AHgene was determined by PCR amplification and restriction analysis. Plasma PAF-AH and high-density lipoprotein-associated PAF-AH (H-PAF-AH) activities were measured by the trichloroacetic acid precipitation method using PAF as substrate and (3 H-acetyl) PAF as tracer. Low-density lipoprotein-associated PAF-AH (L-PAF-AH) activity was obtained by subtracting H-PAF-AH activity from plasma PAF-AH activity. Results The frequencies of the A and V alleles at Ala379Val site were 0.890 and 0.110 in the patient group, and 0.865 and 0.135 in control group, respectively. No significant differences in the frequencies of the genotypes and alleles were observed between the two groups (P >0.05). However, the body mass index (BMI) and the ratio of L-PAF-AH to H-PAF-AH activities were significantly higher, and H-PAF-AH activity was significantly lower, in patients with V alleles (AV + VV genotypes) compared to patients with AA homozygotes (P <0.05). Conclusion The Ala379Val polymorphism of the PAF-AH gene was not associated with PE, but the V allele variation at this site might be associated with the increased BMI and the abnormal distribution of plasma PAF-AH activities in lipoproteins in patients with PE.

     

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