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卵巢早衰(premature ovarian failure,POF)是指女性40岁前由于卵巢内卵泡耗竭或医源性损伤导致卵巢功能衰竭,是由多种病因及复杂机制引起的多基因疾病;近年,无论是基因单核苷酸多态性的分析、家族遗传学的研究还是进一步蛋白功能学的研究,都显示常染色体上的NANOS3、Bcl-2、BMP-15、GDF-9、TGFBR3等基因突变可能与卵巢早衰发生相关。本文从遗传学角度回顾了近几年来对POF病因学研究所取得的进展。
Premature ovarian failure (POF) is a multi-gene disease caused by a variety of etiologies and complex mechanisms in women with ovarian failure caused by depletion of ovarian follicles or iatrogenic injury before age 40. In recent years, Analysis of nucleotide polymorphisms, family genetics or further protein functional studies have shown that autosomal NANOS3, Bcl-2, BMP-15, GDF-9, TGFBR3 and other genetic mutations may be associated with premature ovarian failure Relevant. This article reviews the progress made in the study of POF etiology in recent years from the perspective of genetics.