Mutation analysis of CSMD3 gene in a pedigree of familial cortical myoclonic tremor with epilepsy / 中国医师杂志

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.