家族性皮质肌阵挛震颤性癫痫一家系8q23.3-24.1连锁分析  

Linkage of Familial Cortical Myoclonic Tremor with Epilepsy to 8q23.3-q24.1 in a family

作　　者：刘彩霞[1] 孙维[2] 孙凯 李佳[2] 胡国华[2] 史宝和[1] 居乃新[1] 陈秋惠[2] 

机构地区：[1]辽宁省人民医院神经内三科,辽宁沈阳110016 [2]吉林大学第二医院,吉林长春130041 [3]辽宁省金秋医院放射线科,辽宁沈阳110017

出　　处：《中风与神经疾病杂志》2015年第11期985-986,共2页Journal of Apoplexy and Nervous Diseases

摘　　要：目的对家族性皮质肌阵挛震颤性癫痫(FCMTE)家系进行8q23.3-24.1连锁分析。方法采集7例临床拟诊为家族性皮质肌阵挛震颤性癫痫家系患者及家系对照者外周血5 ml,采用聚合酶链式反应(PCR)及STR多态性标记物后连锁分析对8q23.3-24.1进行初步筛查。结果我们分析了已报道的5个STR位点与致病基因的两点LOD值均<-2(θ=0.0)。结论该家系致病基因在的8q23.3-q24.1可能性很小,排除该FCTME家系致病基因位于该区段的可能。Objective In this study,We aimed to establish the pathogenic gene loci on 8q23. 3-24. 1 in this Familial cortical myoclonic tremor with epilepsy（ FCMTE） pedigree. Methods After obtaining informed consent,peripheral blood（ 5 ml） samples were obtained from FCMTE patients（ 7） and control individuals,we amplified polymerase chain reaction（ PCR）. Then five STRs on chromosomal segments 8q23. 3-q24. 1 were chosen at genetic distances appropriate for conducting linkage analysis. Results Negative signal were all obtained for 8q23. 3-q24. 1（ LOD scores Less than ﹣ 2 for 5STRs,respectively; θ = 0. 0）,excluding involvement of these regions in the FCTME pedigree analyzed. Conclusion STR linkage analysis of 8q23. 3-q24. 1 didn＇t support linkage to these regions,indicating that the pathogenic gene in the pedigree we studied is not in this chromosome segment.

关 键 词：家族性皮质肌阵挛震颤性癫痫 家系 基因 聚合酶链 

分 类 号：R742.1[医药卫生—神经病学与精神病学]