人类卵子生成、受精及早期胚胎发育异常的遗传学研究进展  

Genetic research progress on abnormal human oocyte formation, fertilization and early embryo development

作　　者：孙一鸣 徐丛剑[1] 王磊 Sun Yiming;Xu Congjian;Wang Lei(Obstetrics and Gynecology Hospital of Fudan University,Shanghai 200021,China;State Key Laboratory of Genetic Engineering,Institutes of Biomedical Sciences,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属妇产科医院,上海200021 [2]复旦大学生物医学研究院,遗传工程国家重点实验室,上海200032

出　　处：《中华生殖与避孕杂志》2020年第11期943-951,共9页Chinese Journal of Reproduction and Contraception

摘　　要：成功的繁殖需要配子成熟、受精和早期胚胎发育。卵母细胞成熟包括一系列形态学和分子学变化,经历生发泡期、减数分裂I中期和减数分裂II中期(MⅡ)。而后精子与MⅡ期的卵母细胞融合,启动胚胎发育,逐步形成各种器官及组织。因此,卵母细胞发育过程中任何一个步骤失败都会导致不孕。然而,人类卵母细胞发育停滞的遗传学病因大多仍不甚清楚。母源RNA和蛋白质对维持正常的胚胎早期发育至关重要。皮质下母源复合体组分基因及其他特定基因的突变与临床上一些体外受精/卵胞质内单精子注射(IVF/ICSI)反复失败的女性不孕症相关。本文结合近期研究就人类卵子生成、受精及早期胚胎发育异常的遗传学基础进行简要综述。Successful reproduction requires gamete maturation,fertilization,and early embryonic development.Oocyte maturation consists of a series of morphological and molecular changes.Oocytes undergo germinal vesicle stage,metaphase I,and metaphase II.Following the fusion of a sperm with a metaphase II oocyte,the embryo starts to develop,and gradually forms various organs and tissues.Therefore,failure in any of the steps will lead to infertility.However,the genetic aetiology of human oocyte maturation arrest is still largely unknown.Maternal RNA and protein play a vital role in maintaining normal early embryonic development.The mutation of subcortical maternal complex component genes and other specific genes are related to female infertility characterized by repeated failure of in vitro fertilization/intracytoplasmic sperm injection(IVF/ICSI).This article reviews the recent studies of the genetic basis that cause abnormal human oocyte formation,fertilization and early embryo development.

关 键 词：卵母细胞 卵母细胞发育停滞 女性不孕 遗传学 

分 类 号：R339.2[医药卫生—人体生理学]