摘要目的 探讨脑瘫患儿的遗传学病因.方法 对表型存在差异的1对双胞胎脑瘫患儿进行全基因组测序,对另外8例脑瘫患儿进行全外显子组测序,用自定义的过滤流程对所发现的基因变异进行筛选,探讨可能与脑瘫相关的生物学通路和基因.结果 共发现3个与脑瘫相关的生物学通路,分别为轴突导向通路(axon guidance)、化学突触传播(transmission across chemical synapses)和突触处蛋白相互作用(protein-protein interactions at synapses),同时发现25个脑瘫易感基因.结论 对脑瘫相关的分子机制进行了初步探讨,可能为脑瘫的药物开发提供新的线索.

abstractsObjective 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 selfdesigned 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.