早发性卵巢功能不全遗传因素中相关基因改变的研究进展  

Advances in research on genetic changes related to premature ovarian insufficiency

作　　者：王云迪 吉日嘎拉赛罕巴达日其 王煜[3] WANG Yun-di;JARGALSAIKHAN Badarch;WANG Yu(Affiliated The First Clinical Medical College,Inner Mongolia Medical University,Hohhot 010050;Department of Obstetrics&Gynecology School of Medicine,Mongolian National University Medical Sciences,Ulaanbaata 817199;Reproductive Medicine Center,Affiliated Hospital of Inner Mongolia Medical University,Hohhot010050)

机构地区：[1]内蒙古医科大学第一临床医学院,呼和浩特010050 [2]蒙古国立医科大学医学院妇产科学系,乌兰巴托817199 [3]内蒙古医科大学附属医院生殖医学中心,呼和浩特010050

出　　处：《生殖医学杂志》2024年第6期831-836,共6页Journal of Reproductive Medicine

基　　金：内蒙古自治区草原英才创新人才项目(2022TD014);内蒙古医科大学科技成果转化项目(YKD2020CGZH007);国家自然科学基金后续项目(RZ2000002917);内蒙古医科大学致远人才计划(DC2100002816);内蒙古科技计划项目(2023KJHZ0038);内蒙古医科大学博士点建设单位资金匹配项目(RC2300002962)。

摘　　要：早发性卵巢功能不全(POI)是指女性在40岁之前出现月经及激素水平异常等现象。近年来,POI的发病率出现逐年提高的趋势,引起国内外学者的强烈关注。随着全外显子测序、全基因组测序等技术的发展,不同的POI候选基因及致病基因被发现,越来越多的研究证实基因突变参与POI的病理生理过程,大大增加了人们对其遗传学病因的认识。本文从DNA损伤修复和同源重组相关基因、转录因子相关基因及卵巢功能相关基因三个方面综述了POI相关基因改变及其分子机制的最新进展,以期进一步明确其发病机制的多样性,为POI的遗传学筛查和治疗提供新的思路。Premature ovarian insufficiency(POI)refers to the occurrence of menstrual and hormonal abnormalities in women before the age of 40.In recent years,the incidence rate of POI has increased year by year,attracting strong attention from scholars at home and abroad.With the development of technologies such as whole exome sequencing and whole genome sequencing,different POI candidate genes and pathogenic genes have been discovered.More and more studies have confirmed that gene mutations are involved in the pathological and physiological processes of POI,which has greatly increased people’s understanding of its genetic etiology.In this paper,we review the latest progress in POI related gene changes and their molecular mechanisms from three aspects:DNA damage repair and homologous recombination related genes,transcription factor related genes,and ovarian function related genes,in order to clarify the diversity of its pathogenesis and provide new ideas for genetic screening and the treatment of POI.

关 键 词：早发性卵巢功能不全 基因突变 病因 

分 类 号：R711.75[医药卫生—妇产科学]