目的 研究β-防御素-1 (DEFBI)基因多态性与重症脓毒症患者感染真菌的临床相关性.方法 回顾性研究2014年5月至2017年5月ICU治疗的脓毒症患者200例,分为真菌感染组80例和未发生真菌感染的对照组120例.应用DNA直接测序、聚合酶联反应双引物等位基因特异性扩增法(PCR-ASA)或Taqman方法检测DEFB1基因-1816A/G、-390A/T、-52A/G、-44C/G、-20A/G等5位点在两组患者中的等位基因和基因型,用遗传分析法计算其单倍型的分布频率,ICU脓毒症患者感染真菌与遗传变异易感性的相关性采用Fisher或x2检验分析,风险度应用(OR)反映该遗传因素及其关联程度.结果 真菌感染组80例和对照组130例患者在年龄、性别构成比上无统计学差异(P＞0.05).DEFBI基因-1816A/G、-390A/T、-52A/G、-44C/G、-20h/G等5位点在两组患者中均遵守Hardy-Weinberg平衡,等位基因平率和基因型分布在对照组与真菌感染组之间差异无统计学意义(P＞0.05).5个位点中常见的单倍型在对照组和真菌感染组中无统计学差异(P＞0.05).结论 DEFBI基因等5位点与ICU重症脓毒症患者感染真菌无相关性.DEFBI基因遗传变异可能不是重症脓毒症患者感染真菌的重要遗传学位点.%Objective To explore the clinical relavance of beta defensin-1 (DEFBI) gene polymorphism with fungal infection in patients with severe sepsis.Methods A retrospective study of 200 patients with sepsis treated in ICU during May 2014 to May 2017 had been carried out,they were divided into fungal infection group (80 cases) and control group (120 cases).The application of DNA direct sequencing,PCR primer pair of allele specific amplification (PCR-ASA) or Taqman method for detection of DEFB1 gene-1816A/G,-390A/T,-52A/G,-44C/G,-20A/G and other 5 sites in patients of these two groups for the genotype and allele frequency distribution,and calculate the haplotype genetic analysis,ICU fungal sepsis and genetic variation in susceptibihty of patients infected with Fisher or 2 test analysis,the risk of application (OR) for reflection of these genetic factors and the degree of correlation.Results There was no statistically significant difference in age and sex ratio among 80 cases of fungal infection group and 130 cases of control group (P ＞ 0.05).The difference in DEFBI,-390A/T,-52A/G,-1816A/G genes-44C/G,-20h/G and other 5 sites had been complied with the Hardy-Weinberg balance in these two groups,the difference in allele frequency and genotype distribution between control group and fungal infection group had no statistical significance (P ＞ 0.05).The haplotypes commonly in these 5 loci were not statistically different between control group and fungal infection group (P ＞ 0.05).Conclusion These 5 foci of DEFBI gene are negatively correlated to the infection of fungi in ICU patients with severe sepsis.Genetic variants of DEFBI gene may not be an important genetic locus of infection in critically ill patients with sepsis.
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