AQP4与先天性脑积水的相关性研究

The research of AQP4 and congenital hydrocephalus

目的研究AQP4在脑积水鼠中的遗传规律,探讨其在脑积水中的作用。方法随机选择未脑积水AQP4敲除雄鼠与AQP4敲除雌鼠交配,用其F1、F2、F3代建立遗传图谱,研究其遗传规律。提取大脑组织总RNA,制作基因芯片研究其在遗传中的作用。结果 AQP4基因敲除表型的是可遗传的且与性别无关,同时并非单基因遗传,且为常染色体遗传;小鼠全基因芯片表明在AQP4敲除的背景下脑积水表型的发生有其它遗传基因的参与。结论通过制作遗传图谱以及小鼠基因芯片,证明AQP4在先天性脑积水发病机制中有重要的作用。

Objective To study the water channel protein 4（Aquaporins-4,AQP4）in the genetic rule of hydrocephalus rats,to explore the role of AQP4 inherited in hydrocephalus.Methods By randomly selecting not seen hydrocephalus AQP4 knockout mice AQP4 knockout female mating,with its F1,F2,F3 generations to establish genetic map,genetic study on its rule.Extracting total RNA of brain tissue,making its role in the genetic gene chip research.ResultsIn the phenotype of AQP4 knockout is heritable and has nothing to do with sex,at the same time is not a single gene heredity,and for euchromosome inheritance;Entirely on gene chip showed that AQP4 knock out mice under the background of the occurrence of hydrocephalus phenotype with the participation of other genes.Conclusion By making genetic map and gene chip in mice,prove that AQP4 has important role in the pathogenesis of congenital hydrocephalus.