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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.
Asunto(s)
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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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