CTLA-4基因启动子1722位点多态性与重症肌无力的相关性研究  

Association of Single Nucleotide Polymorphisms of CTLA-4 Promoter Region 1722T/C with Myasthenia Gravis

作　　者：林晓芳[1] 刘肇绩[1] 郑维红[1] 王文杰[1] 

机构地区：[1]厦门大学附属中山医院神经内科,福建省厦门市361004

出　　处：《医学分子生物学杂志》2014年第2期98-101,共4页Journal of Medical Molecular Biology

摘　　要：目的探讨细胞毒性T淋巴细胞相关抗原4（cTLA-4）基因多态性与福建地区重症肌无力（MG）的相关性。方法：PCR扩增、限制性片断长度多态性方法检测重症肌无力患者CTLA4基因启动子1722位点多态性，ELISA法检测血清可溶性CTLA-4（sCTLA-4）水平。结果：与对照组比较，MG组CTLA-4的1722位点CT基因型差异有统计学意义（X^2CT=5．36，P=0．02）。无复发病史的1722位点CC基因型多于复发患者（X^2=6．21，P=0．01），血清sCTLA-4与MG患者基因多态性无明显相关性。结论：CTLA-4的-1772位点多态性与福建当地MG明显相关。Objective To investigate the association of single nucleotide polymorphisms of CT- LA-4 promoter region 1722T/C with myasthenia gravis （MG） . Methods ： Single nucleotide polymorphisms of CTLA-4 at promoter 1722 were analyzed by restriction fragment length polymor- phism in MG patients and healthy controls. Results The frequency of the CT-1722 genotype was lower in MG patients than in controls （X^2CT =5. 36, P =0.02） . The frequency of CC-1722 geno- type was lower in MG patients with recurrence （X^2CC =6.21, P =0. 01 ） . There was no significant association between the concentrations of sCTLA-4 and the single nucleotide polymorphisms of CT-LA-4 promoter region 1722T/C in MG. Conclusion Single nucleotide polymorphisms of CTLA-4 promoter region 1722T/C is significantly associated with MG.

关 键 词：重症肌无力 细胞毒性T淋巴细胞相关抗原-4 基因多态性 

分 类 号：Q78[生物学—分子生物学]