B细胞活化因子(BAFF)基因rs9514828多态性与重症肌无力的关系  

Associations of BAFF rs9514828 polymorphisms with myasthenia gravis

作　　者：徐昕[1] 孙亮[2] 谢琰臣[3] 王梓炫[1] 周晓斌[4] 王淑霞[1] 刘相萍[5] 张华[6] 杨泽[3] 李海峰[1] 

机构地区：[1]青岛大学医学院附属医院神经内科,山东青岛266003 [2]卫生部北京医院-卫生部北京老年病学研究所,北京100730 [3]首都医科大学附属北京友谊医院神经科,北京100050 [4]青岛大学医学院统计学教研室,山东青岛266021 [5]青岛大学医学院附属医院中心实验室,山东青岛266003 [6]卫生部北京医院神经内科,北京100730

出　　处：《中风与神经疾病杂志》2011年第4期313-316,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨B细胞活化因子(BAFF)基因rs9514828多态性与重症肌无力(MG)的关系。方法采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术对168例MG患者和142例正常对照组进行基因分型,比较基因型和等位基因在MG患者与健康人群中及各MG亚组的分布,并观察与激素短期疗效的关系。结果 rs9514828位点的基因型及等位基因频率在MG患者及健康人群及各MG亚组中分布的差异无统计学意义(P>0.05)。rs9514828位点基因型和等位基因频率与发病后1年内临床分型是否由眼肌型进展为全身型无关(P>0.05)。不同激素短期疗效的MG患者rs9514828位点的基因型及等位基因频率的差异无统计学意义(P>0.05)。结论 BAFF基因rs9514828位点多态性与MG疾病的易感性及激素短期疗效无显著的相关性。Objective To analyze the relationships between BAFF rs9514828 polymorphism and myasthenia gravis（MG）.Methods BAFF rs9514828 polymorphism was determined by polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP） method.The frequencies of genotypes and alleles were compared among different subgroups of MG patients and controls.Results There was no significant differences in frequencies of alleles and genotypes among MG patients,healthy controls,and MG subgroups（P0.05）.No significant difference in the frequencies of alleles and genotypes was detected between MG patients with different short-term therapeutic effect of glucocorticoid（P0.05）.There was no significant differences in frequencies of alleles and genotypes between the subgroup of ocular MG（OMG） patients who did or did not progress to generalized MG（GMG） within one year after the onset of MG（P0.05）.Conclusions There was no significant correlation between BAFF rs9514828 gene polymorphism and MG susceptibility and short-term therapeutic effect of glucocorticoid.

关 键 词：重症肌无力 B细胞活化因子 基因 多态性 

分 类 号：R512.91[医药卫生—内科学]