1.A pedigree with familial cortical myoclonic epilepsy.
Caixia LIU ; Naixin JU ; Kai SUN ; Baohe SHI ; Haina ZHANG
Chinese Journal of Medical Genetics 2014;31(6):811-812
Adolescent
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Adult
;
Child
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Epilepsies, Myoclonic
;
genetics
;
Female
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Humans
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Male
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Middle Aged
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Pedigree
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Young Adult
2.Linkage of 8q23.3-q24.1 and 10p15 genetic loci in benigh adult familial myoclonic epilepsy of a family
Caixia LIU ; Wei SUN ; Baohe SHI ; Naixin JU ; Haina ZHANG ; Jia LI ; Qiuhui CHEN
Chinese Journal of Neuromedicine 2015;14(12):1282-1284
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.