家族性皮质肌阵挛震颤性癫（癎）一家系CSMD3基因突变分析

Mutation analysis of CSMD3 gene in a pedigree of familial cortical myoclonic tremor with epilepsy

目的 对家族性皮质肌阵挛震颤性癫（癎）（FCMTE）家系进行CSMD3基因突变分析.方法 采集7例临床拟诊为家族性皮质肌阵挛震颤性癫（癎）家系患者及家系对照者外周血,利用聚合酶链式反应（PCR）及PCR产物测序法对CSMD3基因73个外显子是否存在突变进行初步筛查.结果 CSMD3基因的73个外显子进行PCR扩增产物测序,测序结果与GenBank人类CSMD3gDNA序列进行比较,未发现任何DNA序列变异,既没有发现多态,也没有发现与疾病相关的突变.结论 该家系不存在CSMD3基因突变,有待于进一步查找该家系的致病基因及突变位点.

Objective To investigate mutations of CSMD3 gene in a pedigree of familial cortical myoclonic tremor with epilepsy （FCMTE）.Methods Peripheral blood （5 ml） was obtained from FCMTE patients （7 cases）,suspected cases,and control individuals.Polymerase chain reaction （PCR） and purification of PCR products for sequencing were used to detect the existence of mutations in 73 exons of gene CSMD3.The resulting products were subjected to agarose gel electrophoresis and gel-imaging system.The PCR amplification products were sequenced.Results The sequencing results of 73 exons were compared with CSMD3gDNA sequence in human GenBank.We neither found any DNA sequence variation nor disease-related mutations.Conclusions The family does not have a mutation in the CSMD3 gene.We need to further find the disease genes and the mutations in this family.