卵巢早衰与脆性X智力障碍基因1CGG异常重复扩增相关性的研究进展

脆性X综合征(FXS)常表现为遗传性智力障碍和自闭症等多系统疾病.脆性X智力障碍基因1(FMR1)为卵巢早衰(POF)发病相关的重要遗传学因素.患POF的女性仍有一定受孕概率,且FMR1基因CGG重复异常的携带者可能性较高,导致其生殖功能改变和不明原因复发性流产发生率增高.本文对POF与FMR1基因CGG异常重复相关研...

Research progress on the correlation between premature ovarian failure and abnormal expansion repeat of CGG of the fragile X mental retardation 1

Fragile X syndrome(FXS)is often manifested as a multisystem disorder such as inherited intellectual disabilities and autism.Fragile X mental retardation 1(FMR1)is an important genetic factor associated with premature ovarian failure(POF).Female with POF still have a certain probability of getting pregnant,and carriers with abnormal expansion repeat of CGG of FMR1 gene more likely occur.It leads to changes in reproductive function and an increased incidence of unexplained recurrent miscarriages in patients with POF.This paper reviewed the studies on premature ovarian failure and abnormal expansion repeat of CGG of FMR1,and provided a theoretical basis for genetic counseling and fertility guidance,so as to reduce birth defects.