DNA损伤修复相关基因致原发性卵巢功能不全的研究进展  

Research progress in DNA repair genes underlying primary ovarian insufficiency

作　　者：颜圣和 柴雪晨 方舒雨 夏小雨 YAN Sheng-he;CHAI Xue-chen;FANG Shu-yu;XIA Xiao-yu(Department of Clinical Medicine,Shanghai Jiao Tong University School of Medicine,Shanghai 200025;Department of Histoembryology,Genetics&Developmental Biology,Shanghai Key Laboratory of Reproductive Medicine,Shanghai Jiao Tong University School of Medicine,Shanghai 200025)

机构地区：[1]上海交通大学医学院临床医学系,上海200025 [2]上海交通大学医学院组织胚胎学与遗传发育学系,上海市生殖医学重点实验室,上海200025

出　　处：《生殖医学杂志》2020年第7期978-982,共5页Journal of Reproductive Medicine

基　　金：国家自然基金面上项目(81971436)。

摘　　要：原发性卵巢功能不全(POI)是指女性在40岁之前即出现闭经并伴血清高促性腺激素及低雌激素水平,是导致女性不孕不育的重要原因之一。POI发病机制高度异质,可能病因包括染色体异常、基因突变、自身免疫异常、医源性及环境因素等,其中遗传学因素约占25%左右。在卵子发生的减数分裂过程中,会发生同源染色体配对、联会、重组、分离等过程,期间,DNA损伤修复机制发挥重要作用。近年来,越来越多的研究发现DNA损伤修复相关基因的异常与POI的发生有关,本文综述了与此相关的最新研究进展。Primary ovarian insufficiency(POI)refers to the early amenorrhoea in women before the age of 40,accompanied with high gonadotropin and low estrogen levels,which is one of the important causes of female infertility.The pathogenesis of POI is highly heterogeneous.The possible causes include chromosomal abnormalities,gene mutations,autoimmune abnormalities,iatrogenic and environmental factors,among which genetic factors account for about 25%.During the homologous recombination of oogenesis,autosyndetic pairing,synapsis,recombination and segregation happened and the DNA damage repair mechanism plays an important role.In recent years,more and more studies revealed that the mutation or dysfunction of genes involved in the DNA damage repair related to the occurrence of POI.Herein,the research progress about this issue was reviewed in this paper.

关 键 词：原发性卵巢功能不全 减数分裂 同源重组 DNA损伤修复 

分 类 号：R711[医药卫生—妇产科学]