摘要
卵巢早衰(POF)是指女性在40岁以前卵巢功能丧失并伴有卵泡刺激素水平升高(FSH>40IU/L)和/或雌激素水平下降的一种生殖内分泌疾病,其病因涉及环境因素、遗传背景、自身免疫、代谢,以及医源性因素等。然而,大多数POF患者的病因仍不清楚。有研究发现X染色体上的脆性X智力低下1(FMR1)基因5'末端非编码区CGG序列重复数增加至前突变(重复数55～200个)与POF的发生存在密切关系。本文将分析FMR1基因的结构和功能,并探讨CGG重复序列数目与POF发生的潜在相关关系。
Premature ovarian failure（POF）is a reproductive endocrine syndrome characterized by loss of ovarian function before the age of 40 years,with elevated follicular stimulating hormone（FSH）〉40IU/L and/or decreased levels of estrogen. Environmental factors, genetic background, autoimmunity, metabolism and iatrogenic factors are proposed to contribute to POF. However, the exact etiology of most of POF remains unknown. Some studies reported that expansion of the CGG repeats of 5＇-untranslated region in the X-linked fragile X mental retardation I（FMR1）gene to the permutation range（55-200 repeats）was associated with pathogenesis of POF. In this review, we analyze the structure and function of the FMR1 gene in order to find the potential association between POF and FMR1 gene CGG repeat number.
出处
《生殖医学杂志》
CAS
2013年第7期551-554,共4页
Journal of Reproductive Medicine
关键词
卵巢早衰
脆性X智力低下1基因
生殖健康
Premature ovarian failure
Fragile X mental retardation 1 （FMR1）gene
Reproductive health
