Linkage Analysis of Familial Cortical Myoclonic Tremor with Epilepsy to 2p11.1-q12.2 and 3q26.32-3q28 in a family / 中风与神经疾病杂志

ABSTRACT

@#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.