人类卵母细胞和早期胚胎发育异常的遗传学研究进展  

Genetic Research Progress on Abnormal Development of Human Oocytes and Early Embryos

作　　者：张鸿惠 赵世刚[1] 赵涵[1] ZHANG Honghui;ZHAO Shigang;ZHAO Han(State Key Laboratory of Reproductive Medicine and Offspring Health,Institute of Women,Children,and Reproductive Health,Shandong University,Jinan 250012,China)

机构地区：[1]山东大学生殖医学与子代健康全国重点实验室,山东大学妇儿与生殖健康研究院,济南250012

出　　处：《中国细胞生物学学报》2024年第4期646-656,共11页Chinese Journal of Cell Biology

基　　金：国家自然科学基金重大项目(批准号:82192874);国家重点研发计划(批准号:2021YFC1000400)资助的课题。

摘　　要：卵母细胞和早期胚胎的正常发育是获得健康后代的关键,遗传因素在卵母细胞成熟和早期胚胎发育过程中发挥重要作用。调控卵母细胞和早期胚胎发育的关键基因突变可导致卵母细胞成熟障碍、受精失败或早期胚胎发育停滞,进而导致不孕或早期流产等。随着全基因组测序和全外显子组测序技术的广泛应用,越来越多的致病基因突变被发现,为不孕患者提供了可靠的诊疗靶点。该文系统回顾了导致人类卵母细胞成熟、受精和早期胚胎发育异常的致病基因,以期促进其在辅助生殖遗传咨询中的应用。The normal development of oocytes and early embryos is crucial for obtaining healthy offspring,and genetic factors play significant roles in the processes of oocyte maturation and early embryo development.Mutations in key genes that regulate the development of oocytes and early embryos can lead to disturbances in oocyte maturation,fertilization failure,or early embryo developmental arrest,ultimately resulting in infertility or early miscarriage.With the widespread application of whole-genome sequencing and whole-exome sequencing technologies,an increasing number of pathogenic gene mutations have been discovered,providing reliable diagnostic and therapeutic targets for patients with infertility.This article systematically reviews the pathogenic genes that lead to the abnormalities of human oocyte maturation,fertilization,and early embryonic development,aiming to promote its application in assisted reproduction.

关 键 词：卵母细胞 受精 早期胚胎 基因突变 

分 类 号：R714.8[医药卫生—妇产科学]