摘要早发性卵巢功能不全(premature ovarian insufficiency，POI)是一类临床较常见的严重危害女性生殖健康的疾病，其病因复杂，遗传因素被认为是其重要致病因素之一。随着高通量遗传检测技术的应用，POI的遗传学病因鉴定迎来新的契机和挑战。染色体微阵列芯片分析(chromosome microarray analysis,CMA)用于鉴别基因组拷贝数变异(copy number variation,CNV)和POI的关系。全基因组关联研究(genome-wide association studies，GWAS)用于POI的遗传致病或易感位点的鉴定。目前CMA和GWAS在POI中的研究相对较少、样本量小，没有发现明确高度相关的、可重复的CNV或遗传易感位点。全外显子组测序(whole exome sequencing,WES)对于鉴定POI新致病基因具有独特优势。靶向二代测序(targeted next generation sequencing,targeted NGS)通过捕获多个靶向基因(panel)制备文库，可以同时对已知POI致病基因进行快速、高通量的筛查，具有更高临床应用价值，有望提高POI基因诊断率。本文就高通量遗传检测技术在POI病因研究中的应用进行综述。

abstractsPremature ovarian insufficiency (POI) is a common disease that seriously endangers women's reproductive health. Its etiology is complex, and genetic factors are considered as one of its important pathogenic factors. With the application of high-throughput genetic testing technology, the genetic etiology of POI will face new opportunities and challenges. Chromosomal microarray analysis (CMA) is used to identify the relationship between genomic copy number variation (CNV) and POI. Genome wide association studies (GWAS) are used for the identification of genetic pathogenic or susceptible sites of POI. Up to date, no highly correlated, reproducible CNV and genetic susceptibility loci have been found in POI by the technology of CMA and GWAS, due to few studies and small sample size. Whole exome sequencing (WES) has unique advantages for identifying novel pathogenic genes of POI. Targeted next generation sequencing (targeted NGS) allows for rapid, high-throughput screening of known POI-causing genes by capturing multiple targeted genes. So, it is expected to be valuable to improve the genetic diagnostic rate of POI. This article reviews the application of high-throughput genetic testing in the study of POI etiology.