家族性皮质肌阵挛震颤性癫痫2p11.1-q12.2和3q26.32-3q28基因位点的连锁分析

Linkage Analysis of Familial Cortical Myoclonic Tremor with Epilepsy to 2p11.1-q12.2 and 3q26.32-3q28 in a family

目的对确诊的家族性皮质肌阵挛震颤性癫痫家系(Familial cortical myoclonic tremor with epilepsy,FCMTE)的2p11.1-q12.2和3q26.32-3q28基因位点进行连锁分析。方法征得受试者同意后,采集临床确诊的FCMTE家系7例患者及13例家系对照者的外周血,采用聚合酶链式反应(PCR)及短串联重复序列(STR)多态性标记物进行连锁分析,初步筛查2p11.1-q12.2和3q26.32-3q28这2个基因位点。结果根据已报道2p11.1-q12.2和3q26.32-3q28染色体位点,在NCBI mapview图谱中找到这些区域中合适遗传距离的STR。连锁分析结果提示,这些位点与致病基因的两点优势对数比(LOD)值均<-2(θ=0.0),不支持连锁。提示该FCMTE家系的致病基因不在上述2个染色体区段。结论该家系致病基因位于2p11.1-q12.2和3q26.32-3q28的可能性很小,排除该FCMTE家系致病基因位于这2个染色体区段的可能。

Objective We aimed to establish the pathogenic gene loci on 2p11.1-q12.2 and 3q26.32-3q28 in this Familial cortical myoclonic tremor with epilepsy(FCMTE)pedigree.Methods After obtaining informed consent,peripheral blood samples were obtained from 7 FCMTE patients and 13 control individuals,we amplified polymerase chain reaction(PCR).Then STRs on chromosomal segments 2p11.1-q12.2 and 3q26.32-3q28 were chosen at genetic distances appropriate for conducting linkage analysis.Results Negative signal were all obtained for 2p11.1-q12.2 and 3q26.32-3q28(LOD scores Less than-2 for the STRs,respectively;θ=0.0),excluding involvement of these regions in the FCMTE pedigree analyzed.Conclusion STR linkage analysis of 2p11.1-q12.2 and 3q26.32-3q28 didn’t support linkage to these regions,indicating that the pathogenic gene in the pedigree we studied is not in these chromosome segments.