血小板活化因子乙酰水解酶基因Val379Ala位点多态性与脓毒症易感性相关性研究

摘要

目的 探讨血小板活化因子乙酰水解酶(PAF-AH)基因Val379Ala位点多态性与脓毒症易感性及预后的关系.方法 采用PCR-RFLP技术,分析82例不同程度脓毒症患者及90名健康对照者PAF-AH基因Val379Ala位点的多态性,对含有等位基因多态性的片段进行DNA测序分析.结果 全部样本经PCR-RFLP分析后,脓毒症组82例中,仅1例纯合子Val/Val型,24例杂合子Val/Ala型,57例纯合子Ala/Ala型;对照组90例中,2例Val/Val型,29例Val/Ala型,59例Ala/Ala型.Val379Ala基因型和等位基因频率:脓毒症组与对照组比较差异无统计学意义(P>0.05),存活组、死亡组与对照组比较差异无统计学意义(P>0.05),轻型脓毒症组、严重脓毒症组与对照组比较差异无统计学意义(P>0.05).结论 PAF-AH基因Val379Ala位点多态性与脓毒症易感性、预后及病情严重程度可能不相关.%Objective To discuss the allele frequency and genotypic distribution of platelet -activating factor acetylhydrolase ( PAF - AH ) gene polymorphism in the patients with sepsis. Methods Val379Ala site genotypes were determined in the patients (n = 82) and healthy controls (n=90) by means of restriction fragment length polymorphism analysis of polymerase chain reaction products, DNA sequencing was used to detect the PCR product containing allele gene polymorphism. SPSS 13.0 statisti-cal software was used to analyze. Results All the samples by PCR - RFLP analysis of the PAF-AH gene in the Val379Ala site had three kinds of genotypes; in 82 cases of sepsis group, there were 1 homo-zygous Val/Val type, 24 heterozygous Val/Ala type, 57 homozygous Ala/Ala type; in 90 cases of con-trol group, there were 2 Val/Val type, 29 Val/Ala type, 59 Ala/Ala type. The Val379Ala allele fre-quency and genotypic distribution in the patients with sepsis was not significantly different from those in the healthy controls ( P > 0. 05) ; no statistically significant difference was observed among the survival group, the death group and the control group ( P > 0. 05 ) ; no statistically significant difference was ob-served among the mild sepsis group, severe sepsis group and control group(P > 0. 05). Conclusion No correlations were found between PAF - AH gene Val379Ala polymorphism and sepsis.