关键词: 早发性卵巢功能不全；, 基因检测；, 染色体畸变；, 突变；, DNA, 线粒体

Abstract: Premature ovarian insufficiency(POI) is a highly heterogeneous disease with complex etiology, the clinical manifestations are infertile, amenorrhoea and low estrogen related symptoms in women under 40 years of age. Studies have shown that gene polymorphism and variation are important pathogenic factors, including X chromosome and autosomal abnormality, abnormal mtDNA and expression of microRNAs, the functions of candidate genes are mainly focused on DNA damage repair, homologous recombination and meiosis. Currently, genetic detection technology has entered the era of genome-wide association research, which can efficiently screen pathogenic genes through a new generation of sequencing technology for further association analysis and genetic verification, it provides a new space for understanding of the complex, polygenic genetic etiology of ovarian failure and offer fertility guidance or develop personalized treatment strategies for the high-risk groups. In this paper, the progress of chromosome abnormality and candidate gene detection related to POI is reviewed.

Key words: Premature ovarian insufficiency；, Genetic testing；, Chromosome aberrations；, Mutation；, DNA, mitochondrial