广西医学2025，Vol.47Issue(3)：351-357,7.DOI:10.11675/j.issn.0253-4304.2025.03.04
早发性卵巢功能不全的遗传学研究进展
Genetics of premature ovarian insufficiency:a research progress
摘要
Abstract
Premature ovarian insufficiency(POI)is a serious threat to female reproductive health,and its etiology is complex and highly heterogeneous,and genetic factors play an important role in the pathogenesis.Traditional methods have identified a variety of key genetic factors for POI,such as chromosomal abnormalities and gene mutations,but it is difficult to fully understand the genetic mechanism of POI.In recent years,high-throughput sequencing technique has significantly improved the ability to identify pathogenic genes and revealed the key roles of molecular mechanism such as DNA repair,meiosis and transcriptional regulation in POI.In addition,complex polygenic genetic mechanism and non-Mendelian genetic mechanism provide new perspectives for accurate diagnosis and personalized treatment of POI.Stem cell and organoid techniques have exhibited potential in disease modeling and treatment research of POI,but safety and effectiveness issues still need to be addressed.This review integrates the latest progress in genetic research related to POI,and looks forward to future research directions,in order to promote the improvement of diagnosis and treatment of this disease and benefit patients.关键词
早发性卵巢功能不全/遗传因素/遗传学机制/干细胞技术/类器官技术/综述Key words
Premature ovarian insufficiency/Genetic factors/Genetic mechanisms/Stem cell technique/Organoid technique/Review分类
医药卫生引用本文复制引用
韦笑宝,曾定元,袁德健..早发性卵巢功能不全的遗传学研究进展[J].广西医学,2025,47(3):351-357,7.基金项目
国家自然科学基金(82460332、82060284) （82460332、82060284）
广西科技计划项目(桂科AD22035223) （桂科AD22035223）
广西重点研发计划(桂科AB25069054、桂科AB18126056) （桂科AB25069054、桂科AB18126056）
