Linkage of 8q23.3-q24.1 and 10p15 genetic loci in benigh adult familial myoclonic epilepsy of a family

VernacularTitle:良性成人家族性肌阵挛性癫痫8q23.3-24.1和10p15基因位点的连锁分析
Author: Caixia LIU ¹ ; Wei SUN ; Baohe SHI ; Naixin JU ; Haina ZHANG ; Jia LI ; Qiuhui CHEN
Author Information

1. 辽宁省人民医院神经内科
Keywords: Epilepsy; Familial myoclonus; Gene
From: Chinese Journal of Neuromedicine 2015;14(12):1282-1284
CountryChina
Language:Chinese
Abstract: Objective To establish the pathogenic gene loci on 8q23.3-24.1 and 10p15 in this benigh adult familial myoclonic epilepsy (BAFME) pedigree.Methods After obtaining informed consent, peripheral blood samples were obtained from 7 BAFME patients and 13 control individuals;amplified polymerase chain reaction (PCR) and short tandem repeat (STR) method were employed to conduct linkage analysis;five STRs on chromosomal segments 8q23.3-q24.1 and three STRs on chromosomal segments 10p1 5 were chosen at genetic distances appropriate.Results Negative signal was all obtained for 8q23.3-q24.1 and 10p15 (LOD scores less than-2 for these STRs, respectively;θ=0.0), excluding involvement of these regions in the BAFME pedigree analyzed.Conclusion STR linkage analysis of 8q23.3-q24.1 and 10p 15 does not support linkage to these regions, indicating that the pathogenic gene in the pedigree we studied is not in these chromosome segments.