肿瘤坏死因子β基因多态性与多发性硬化的相关性研究  

Association between tumor necrosis factor beta gene polymorphism and multiple sclerosis

作　　者：宋秀娟[1] 郭力[1] 李彬[1] 张静[1] 董惠[1] 

机构地区：[1]河北医科大学第二医院神经内科,石家庄050000

出　　处：《中国神经精神疾病杂志》2008年第2期76-78,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：河北省卫生厅技术跟踪资助项目(编号:200402)

摘　　要：目的研究肿瘤坏死因子β(tumor necrosis factor β,TNFβ)基因多态性与多发性硬化(multiple sclero-sis,MS)的相关性。方法①采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术对58例MS患者和79名健康人进行TNFβ基因多态性分析。②对MS组患者分别进行临床EDSS评分等临床资料收集。结果①MS组TNFβ1等位基因频率(45·69%)较健康人(27·85%)明显升高(P<0·05);②基因型为TNFβ1/1、TNFβ1/2、TNFβ2/2的MS组患者EDSS评分、首次发病年龄、病程及发病次数各组间比较差异均无统计学意义(P>0·05)。结论TNFβ1等位基因多态性与MS的易患性有关,与EDSS评分、首次发病年龄、病程及发病次数无显著相关性。Objective To investigate the association of the tumor necrosis factor beta（TNFβ） gene polymorphism with multiple sclerosis （MS）. Methods ①A case - control research was performed on 58 MS patients and 79 healthy controis. The gene polymorphism at position ＋ 252 in the first intron region of TNFβ was screened by using polymerase chain reaction （PCR） amplification and restriction fragment length polymorphism （RFLP） assay. ② The neurologic impairment of patients was scored according to the Expanded Disability Status Scale （EDSS） Clinical data in eluded the age at onset, the duration of disease, and the number of relapses were collected. Results ①The frequencies of TNFβ1 allele increased significantly in MS patients compared with those of healthy controls （45.69% vs. 27.85% ,P 〈 0.05 ）. ②There was no significant difference in the EDSS scores, the age at onset, the duration of disease, and the number of relapses among MS group with TNFβ1/1 ,TNFβ1/2 and TNFβ2/2 respectively （ F = 0. 27, F = 0.05, F = 0.14, F = 0.98, P 〉 0.05, respectively）. Conclusions TNFβ gene Polymorphism at position ＋ 252 in the first intron region was associated with MS genetic susceptibility, but not with the EDSS scores, the age at onset, the duration of disease, and the number of relapses.

关 键 词：肿瘤坏死因子 多发性硬化 基因 多态性 EDSS评分 

分 类 号：R744.5[医药卫生—神经病学与精神病学]