ZP1基因突变在空卵泡综合征中的研究进展

Research Progress of ZP1 Gene Mutation in Empty Follicle Syndrome

空卵泡综合征(empty follicle syndrome)发病机制尚不清楚,越来越多的研究聚焦于遗传因素,尤其是调控卵母细胞发育的相关基因。其中,透明带糖蛋白1(zona pellucida glycoprotein 1,ZP1)是透明带基质结构完整性的关键组成部分。由ZP1基因突变造成的透明带结构和功能的缺陷常会导致卵母细胞成熟障碍、脆性增加,进而造成反复取卵失败。现已鉴定出多种导致空卵泡综合征表型的ZP1基因突变。综述不同部位ZP1基因突变引起空卵泡综合征表型及其作用机制。

The pathogenesis of empty follicle syndrome has not been clarified.More and more research has focused on the genetic factors of empty follicle syndrome,especially the genes involved in regulating oocyte development.Zona pellucida glycoprotein 1(ZP1)is a key component of the structural integrity of the zona pellucida matrix.Structural and functional defects of zona pellucida due to the mutations of ZP1 gene often lead to the impaired oocyte maturation and the increased fragility,which may lead to the repeated oocyte retrieval failures.Various mutations of ZP1 gene that cause empty follicle syndrome phenotypes have been identified.In this paper,we reviewed the action and mechanism of ZP1 gene mutations at different sites in causing the empty follicle syndrome phenotype.