【摘要】 目的 分析集落刺激因子2受体β亚单位（CSF2RB）基因单核苷酸多态性（SNP）位点（rs4821567、rs2413436）与急性一氧化碳中毒后迟发性脑病的相关性，寻求与急性一氧化碳中毒后迟发性脑病发病相关的易感基因。方法 将664例急性一氧化碳中毒患者按是否出现迟发性脑病分为DEACMP组（235例）和ACMP组（429例），采集两组患者外周血样本，提取外周血DNA，检测集落刺激因子2受体β亚单位基因的2个SNP位点（rs4821567、rs2413436）所在的基因序列，其中rs2413436位点DEACMP组231例患者、ACMP组405例患者，rs4821567位点DEACMP组232例患者、ACMP组422例患者；采用Sequenom方法分析CSF2RB基因多态性与急性一氧化碳中毒后迟发性脑病的关联性。统计急性一氧化碳中毒后迟发性脑病患者神经心理学评估结果（日常生活能力量表及长谷川痴呆量表评分）。先用拟合优度卡方检验分析样本基因型分布是否符合哈迪-温伯格定律；关联分析则使用卡方检验。结果ACMP组与DEACMP组CSF2RB基因2个SNP位点基因型和等位基因频率比较差异无统计学意义（P>0.05）。四种模型（超显性模型、隐性模型、共显性模型、显性模型）下rs4821567及rs2413436基因型与急性一氧化碳中毒后迟发性脑病发病的关联分析结果显示，两者无相关性（P>0.05）。结论CSF2RB基因的2个SNP位点（rs4821567及rs2413436）和急性一氧化碳中毒后迟发性脑病的发病无相关性。更多还原

【Abstract】 Objective To analyze the association between two SNP loci(rs2413436,rs4821567)of colonystimulating factor 2receptor subunitβ(CSF2RB)gene and delayed encephalopathy after acute carbon monoxide poisoning(DEACMP)and to seek the susceptibility genes associated with the DEACMP.Methods A total of 664patients with acute carbon monoxide poisoning were divided into DEACMP group(235cases)and ACMP group (429cases)according to whether there was delayed encephalopathy.Peripheral blood samples were collected from two groups,DNAs extracted from peripheral blood,and the gene sequences of two SNP loci (rs4821567,rs2413436)in CSF2RB genes detected;of them,patients with rs2413436were 231in DEACMP and 405in ACMP group;patients with rs4821567 were 232 in DEACMP and 422in ACMP group.The association between CSF2RB gene polymorphism and DEACMP was analyzed with Sequenom method.Neuropsychological assessment results（Activity of Daily Living Scale and Hasegawa Dementia Scale score)were counted in DEACMP patients.Firstly,the goodness-of-fit Chi-square method was used to test whether the genotype distribution of samples complied with Hardy-Weinberg law;correlation analysis was conducted with chi square test.Results Intergroup differences of genotype and allele frequency of two SNP loci of CSF2RB gene were not statistically significant(P>0.05).There was no association between rs2413436and rs4821567genotypes and DEACMP onset under four genetic models(super dominant inheritance,recessive inheritance,co-dominant inheritance,dominant inheritance)(P>0.05).Conclusion There is no correlation between the two SNP loci of the CSF2RB gene(rs4821567and rs2413436)and the onset of DEACMP.更多还原