人ZP基因突变导致卵子异常和不孕的研究进展  

Advances in ZP gene mutation causing abnormal oocyte and infertility

作　　者：姚叶洁 孙贇[1] Yao Yejie;Sun Yun(Centre for Reproductive Medicine,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics,Shanghai 200135,China)

机构地区：[1]上海交通大学医学院附属仁济医院生殖医学中心上海市辅助生殖与优生重点实验室,上海200135

出　　处：《中华生殖与避孕杂志》2022年第9期967-973,共7页Chinese Journal of Reproduction and Contraception

基　　金：上海交通大学医学院高水平地方高校创新团队(SSMU-ZLCX20180401);上海市教育委员会高峰高原学科建设计划(20161413)。

摘　　要：透明带(zona pellucida,ZP)基因属于卵细胞特异性表达基因,编码ZP蛋白。人类的ZP蛋白包括ZP1、ZP2、ZP3和ZP4四个成员,参与组成了围绕在卵子质膜周围的ZP。ZP能参与精卵识别、诱导顶体反应,防止多精受精同时能保护早期胚胎发育。敲除小鼠相关ZP基因会导致卵子形态异常和(或)生育障碍。部分原发性不孕的患者存在ZP基因的突变,主要表现为卵子ZP变薄、ZP缺失或者空卵泡综合征。本文将对ZP基因及蛋白的结构和功能、人不同ZP基因突变与卵子异常的关联作一系统阐述。Zona pellucida(ZP)genes,which code for the ZP glycoproteins,are expressed exclusively in oocytes.The ZP glycoproteins of human,consisting of ZP1,ZP2,ZP3 and ZP4,form ZP surrounding the oocytes'plasma membrane.ZP plays a critical role in sperm-egg binding and induction of acrosome reaction,prevents polyspermy and protects early embryo growth.The mice which knockout ZP gene have abnormal oocyte morphology and/or fertility disorders.Sequencing of the ZP gene has been detected in sporadic patients with repeated cycles of oocyte maturation arrest or morphologic defects,manifesting as ZP-thin oocytes,ZP-free oocytes and empty follicle syndrome.In this paper,the structure and function of ZP gene and protein,the relationship between different ZP gene mutations and ovum abnormalities were systematically described.

关 键 词：透明带 透明带基因突变 卵子异常 空卵泡综合征 不孕 

分 类 号：R711.6[医药卫生—妇产科学]