血小板活化因子乙酰水解酶基因Ala379Val、Val279Phe位点多态性与脓毒症易感性相关性研究  

Association between Ala379Val and Va1279Phe gene polymorphism of platelet-activating factor acetylhydrolase susceptibility and prognosis of sepsis

作　　者：王巍巍[1] 宋诗铎[2] 王玉宝[2] 祁伟[2] 

机构地区：[1]天津市第一中心医院急救中心,300192 [2]天津医科大学第二医院感染研究所,300211

出　　处：《中华微生物学和免疫学杂志》2011年第11期1007-1011,共5页Chinese Journal of Microbiology and Immunology

摘　　要：目的 探讨血小板活化因子乙酰水解酶（ PAF-AH）基因Ala379Val、Val279Phe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66例不同程度的脓毒症患者及68名健康对照者PAF-AH基因Ala379Val、Val279Phe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,SPSS13.0软件进行统计学分析.结果 全部样本经PCR-RFLP分析后,在PAF-AH基因Ala379Val位点3种基因型中,脓毒症组66例中仅1例纯合子Val/Val型,19例杂合子Val/Ala型,46例纯合子Ala/Ala型；对照组68例中2例Val/Val型,22例Val/Ala型,44例Ala/Ala型.Ala379Val基因型及等位基因频率分布在脓毒症组和对照组之间、存活组和死亡组之间尚无统计学意义（P＞0.05）.在PAF-AH基因Val279Phe位点3种基因型中,脓毒症组66例中全部为纯合子Val/Val型,对照组68例中仅1例纯合子Phe/Phe型,其余全部为纯合子Val/Val型,未发现杂合子Val/Phe型.Val279Phe基因型及等位基因频率分布在对照组和脓毒症组之间、存活组和死亡组之间尚无统计学意义（P＞0.05）.结论 PAF-AH基因Ala379Val、Val279Phe位点多态性存在蛋白质一级结构差异的较大可能,与脓毒症易感性、预后可能不相关.Objective To determine the allele frequency and genotypic distribution of plateletactivating factor acetylhydrolase （PAF-AH） gene polymorphism in the patients with sepsis. Methods Ala379Val,Val279Phe site genotypes were determined in patients （n=66） and healthy controls（n=68） 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.SPSS13.0 statistical software was use to analyze.Results All the samples by PCR-RFLP analysis of the PAF-AH gene in the Ala379Val site have three kinds of genotypes： in 66 cases of sepsis group there were 1 homozygous Val/Val type,19 heterozygous Val/Ala type,46 homozygous Ala/Ala type.In 68 cases of control group there were 2 Val/Val type,22 Val/Ala type,44 Ala/Ala type.The Ala379Val allele frequency and genotypic distribution in the patients with sepsis was not significantly different from those in the healthy controls.No statistically significant difference was observed between the survival group and the death group （ P〉0.05 ）.PAFAH gene of Va1279Phe polymorphism could have three kinds of genotypes.All 66 patients in the sepsis group were the homozygous Val/Val type.Control group 68 cases,only one case was homozygous Phe/Phe type,and the others were homozygous Val/Val type,not found heterozygous Val/Phe type.The Val279Phe genotypic distribution and allele gene frequency in the patients with sepsis was not significantly different from those in the healthy controls; no statistically significant difference was observed no statistically significant difference was observed between the survival group and the death group （ P〉0.05 ）.Conclusion No associations were found between PAF-AH gene Ala379Val and Val279Phe polymorphisms and sepsis susceptibility,prognosis and severity.

关 键 词：脓毒症 血小板活化因子乙酰水解酶 基因多态性 

分 类 号：R459.7[医药卫生—急诊医学]