《生命科学》 2017, 29(1): 43-51

重大生殖疾病的分子机制研究

赵世刚，陈子江*

(山东大学附属省立医院，山东大学附属生殖医院，国家辅助生殖与优生工程技术研究中心，生殖内分泌教育部重点实验室，济南 250001)

摘　要：摘　要：重大生殖疾病是一组严重影响生殖健康，病因和临床表现高度异质的疾病群，其中女性常见的有多囊卵巢综合征(PCOS)、卵巢早衰(POF) 等，遗传因素在疾病的发生发展中起到重要作用。近年来，依靠高通量技术，如全基因组关联分析、全外显子组测序等，我国在重大生殖疾病的遗传学研究中取得了重要进展，主要包括对PCOS 和POF 大样本散发病例及其对照进行全基因组关联研究、家系患者的全外显子组或全基因组测序研究等，鉴定出多个遗传易感位点，获得大量候选基因的信息。虽然这些研究结果为解析疾病提供了大量线索，但是也提出了更多挑战。如何深入研究这些易感位点在疾病中的致病机制，及其在复杂疾病诊治中的转化应用成为日后的工作重点，现就相关分子机制研究进展做一简要论述。

Molecular mechanisms of major reproductive diseases

ZHAO Shi-Gang， CHEN Zi-Jiang*

(Center for Reproductive Medicine， Shandong Provincial Hospital Affiliated to Shandong University; Shandong Provincial Key Laboratory of Reproductive Medicine; National Research Center for Assisted Reproductive Technology and Reproductive Genetics， China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education， Jinan 250001， China)

Abstract: Abstract: The major reproductive diseases are a group of disorders， which seriously affect reproductive health and have a high clinical and genetic heterogeneity. Polycystic ovary syndrome (PCOS) and premature ovarian failure (POF) characterized by menstrual and ovulation disorders and infertility， are the most common reproductive diseases for women. Genetic factors play an important role in the development of these diseases. In recent years Chinese researchers have made significant achievements in the genetic etiology study of the reproductive diseases based on high-throughput technologies， such as genome-wide association study (GWAS) and the whole exome sequencing (WES). Through the first GWAS in sporadic PCOS and POF patients and the WES in POF pedigrees， we identified a lot of genetic susceptibility loci for both of the two diseases. Although these loci provide clues for etiology study， how to illustrate the pathogenesis of them and make translational application in disease diagnosis and treatment will be the next challenge. Here we make a brief description of the research progress on molecular mechanisms of the major reproductive diseases.