不孕症的遗传学病因研究综述  

A review of the genetic causes of infertility

作　　者：张婷[1] 闫铮 吴畏[3] 孙赟[1] 安宇 Zhang Ting;Yan Zheng;Wu Wei;Sun Yun;An Yu(Reproductive Medicine Center,Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital,Shanghai 200135,China;ONE Fertility Kitchener Waterloo,Affliated with McMaster University,Ontario,N2P 2X7,Canada;The State Key Laboratory of Reproductive Medicine,The First Affiliated Hospital with Nanjing Medical University,Nanjing 210029,China;Human Phenome Institute,Fudan University,Shanghai 201203,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200135 [2]麦克马斯特大学附属ONE Fertility Kitchener Waterloo,加拿大安大略N2P 2X7 [3]南京医科大学第一附属医院临床生殖医学中心,江苏南京210029 [4]复旦大学人类表型组研究院,上海201203

出　　处：《兰州大学学报（医学版）》2023年第3期63-70,共8页Journal of Lanzhou University（Medical Sciences）

基　　金：上海市市级重大专项“国际人类表型组计划(一期)”资助项目(2017SHZDZX01)。

摘　　要：不孕症是影响生殖健康的重要原因。不孕不育的发生受许多因素影响,遗传因素对于明确不孕症的诊断及再生育计划制定非常有意义。本文从遗传因素出发,对于女性不孕症中性腺发育不全、卵巢功能不全、卵母细胞成熟障碍、受精失败、卵裂失败及早期胚胎发育阻滞、空卵泡综合征等,男性不育症中精子发生、少弱畸形精子症、性腺发育等疾病进行了最新研究进展的总结,主要包括染色体异常、拷贝数变异以及单个基因的缺陷等变异类型的遗传病因。Infertility hinders reproductive health to a great extent.The occurrence of infertility is affected by many factors,and genetic factors are a key to the diagnosis of infertility and formulation of reproductive plans.This article started from the genetic factors concerning female infertility gonad hypogenesis,ovarian insufficiency,oocyte maturation disorder,fertilization failure,cleavage failure and early embryo development block,empty follicle syndrome,etc.,and male infertility diseases such as spermatogenesis,oligoasthenozoospermia,and gonadal development,and then summarized the research progress in chromosomal abnormalities,copy number variations and defects of individual genes.

关 键 词：不孕症 遗传因素 病因学 基因组 

分 类 号：R711.6[医药卫生—妇产科学]