Genetic analysis of 10 children with cerebral palsy / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 229-233, 2019.
Article
in Zh
| WPRIM
| ID: wpr-775762
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
Cerebral Palsy
/
Genetic Testing
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Whole Genome Sequencing
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Exome Sequencing
/
Genetics
Limits:
Child
/
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Year:
2019
Type:
Article