Genetic analysis of 10 children with cerebral palsy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 229-233, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-775762
ABSTRACT
OBJECTIVE@#To explore the genetic basis of cerebral palsy (CP).@*METHODS@#A pair of twins with cerebral palsy and different phenotypes were subjected to whole genome sequencing, and other 8 children with CP were subjected to whole exome sequencing. Genetic variations were screened by a self-designed filtration process in order to explore the CP-related biological pathways and genes.@*RESULTS@#Three biological pathways related to CP were identified, which included axon guiding, transmission across chemical synapses and protein-protein interactions at synapses, and 25 susceptibility genes for CP were identified.@*CONCLUSION@#The molecular mechanism of CP has been explored, which may provide clues for development of new treatment for CP.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Parálisis Cerebral
/
Pruebas Genéticas
/
Secuenciación Completa del Genoma
/
Secuenciación del Exoma
/
Genética
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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