早发性卵巢功能不全基因检测的研究进展

早发性卵巢功能不全(premature ovarian insufficiency,POI)是一种临床高度异质性且病因复杂的疾病,临床表现为40岁以下的女性出现不孕、闭经和低雌激素相关症状。研究表明基因多态性及变异是POI重要的致病因素,包括X染色体和常染色体异常、线粒体DNA(mtDNA)异常及微小RNAs表达异常等,其相关致病候选基因的功能主要集中在DNA损伤修复、同源重组和减数分裂等方面。随着目前遗传检测技术进入了全基因组关联研究的时代,可通过新一代测序技术高效筛查有关致病基因并进行关联分析、遗传学验证,为了解卵巢功能衰竭相关复杂、多基因性质的遗传学病因提供新的发展空间,以实现对临床高危人群提供生育指导或制定个性化的治疗策略。本文就POI相关的染色体异常及候选基因检测进展进行综述。

Progress in Gene Detection of Premature Ovarian Insufficiency

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.