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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。
Major reproductive disease is a group of diseases that seriously affect reproductive health, etiology and clinical manifestations. Among them, women with polycystic ovary syndrome (PCOS), premature ovarian failure (POF) and so on are the genetic factors in the development of the disease Play an important role. In recent years, relying on high-throughput technologies, such as genome-wide association analysis and whole exome sequencing, China has made important progress in the genetics research of major reproductive diseases, including major cases of PCOS and POF sporadic cases and their Control genome-wide association studies, family-wide exome or whole genome sequencing studies, identification of a number of genetic susceptibility loci, access to a large number of candidate genes. Although these findings provide a wealth of clues to parsing the disease, they pose additional challenges. How to further study the pathogenic mechanism of these susceptible sites in diseases and their application in the transformation and diagnosis of complex diseases has become the focus of work in the future. Now we will make a brief discussion on the progress of related molecular mechanisms.