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

VernacularTitle:家族性皮质肌阵挛震颤性癫(癎)一家系CSMD3基因突变分析
Author: Caixia LIU ; Wei SUN ; Jia LI ; Lihua DONG ; Haina ZHANG ; Guohua HU ; Qiuhui CHEN
Publication Type:Journal Article
Keywords: Epilepsies,myoclonic/GE; Mutation; Genes/GE
From: Journal of Chinese Physician 2015;17(8):1193-1196
CountryChina
Language:Chinese
Abstract: 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.