葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是临床最常见的红细胞遗传性酶缺陷病，因基因突变致酶活性降低，进而使红细胞不能抗氧化而损伤，引起溶血性贫血，对人类危害较大。该病的临床表现多样，疾病严重程度与G6PD的酶活性密切相关。G6PD酶学、结构与功能关系研究渐被关注，探讨G6PD结构与功能的关系对于诠释发病的分子机制有着重要的作用。但目前缺乏有效的研究模型制约了对该病系统和深入的研究。斑马鱼因胚胎体外发育、透明，可直接动态监测造血发育过程、造血调控网络与人类高度保守等优势，是研究该病的合适模型。课题组前期已建立斑马鱼转基因模型平台，制备了含两种中国人常见G6PD变异型位点的斑马鱼突变缺陷型基因，本课题拟建立可示踪的突变缺陷型G6PD转基因斑马鱼模型，并基于该模型深入探讨突变型G6PD基因在红系发育和红细胞中的功能，系统全面地阐明G6PD缺乏症发病机理,为进一步研发新的干预策略提供理论依据。

Glucose - 6 - phosphate dehydrogenase (G6PD) deficiency is the worldwide hereditary enzyme deficiency in the clinical investigation .The deficiency is due to G6PD gene mutantions induced decrease in enzyme activity. As a result, red blood cells can not be destroyed by the anti-oxidative damage caused hemolytic anemia. It is high incidence, about 100 million patients in China. Guizhou province is one of the Chinese high incidence area.G6PD enzymology and the relationship of structure-function studies have gradually been concerned about. To study G6PD structure-function relationships for the interpretation of the molecular mechanisms of disease plays an important role in the future. However, the lack of ideal experimental model lead to the constraint of further research of the disease. The advantages of zebrafish embryos are development in vitro, transparent,achieve the direct dynamic monitoring of hematopoietic development process, hematopoietic regulatory network is highly conserved in human.therefore,zebrafish is a suitable model to study the disease. The research group previously established two mutant g6pd transgenic lines by zebrafish model with containing highly conserved in two Chinese people common G6PD variant sites and human G6PD enzyme NADP+ bind sites. On that basis, the project intends to establish mutant G6PD zebrafish model, Using the model to detect the function of g6pd gene in erythroid development and to clarify the possible pathogenic mechanisms of G6PD deficiency . Furthur to provide a basis for deeply research and to discover of new intervention strategies.