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
Journal of Apoplexy and Nervous Diseases
; (12): 398-400, 2020.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-1039760
Biblioteca responsable:
WPRO
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.
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Base de datos:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Journal of Apoplexy and Nervous Diseases
Año:
2020
Tipo del documento:
Artículo