1.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.
2.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
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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
;
Pedigree
;
Young Adult

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