卵巢储备功能减退的相关分子遗传学研究进展  

Advances in Molecular Genetics of Diminished Ovarian Reserve

作　　者：陈海霞[1] 白晓红(审校)[1] CHEN Hai-xia;BAI Xiao-hong(Center for Reproductive Medicine,Department of Obstetrics and Gynecology,Tianjin Medical University General Hospital,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院妇产科生殖医学中心,300052

出　　处：《国际生殖健康／计划生育杂志》2020年第5期411-415,共5页Journal of International Reproductive Health/Family Planning

基　　金：天津医科大学总医院孵育基金(ZYYFY2016039)。

摘　　要：卵巢储备功能减退(diminished ovarian reserve,DOR)患者常表现为月经周期正常,但卵子数量和质量下降,生育能力下降。DOR比卵巢早衰(premature ovarian failure,POF)更为普遍,影响将近10%寻求生育治疗的患者。目前,对DOR病因学知之甚少。DOR分为生理性DOR和病理性DOR。病理性DOR的病因是多因素造成的,包括免疫性、遗传性、特发性等因素,其中由特发性原因引起的DOR也可能有遗传因素。以DOR为中心,对引起该病的相关基因突变、基因多态性、端粒长度变化等研究进展加以综述,以期通过分子遗传学病因分析,实现病理性DOR人群早期筛查和及早诊断。Women with diminished ovarian reserve(DOR)have a normal menstrual cycle,but the decreased number and quality of oocytes and fertility decline.DOR is more often than premature ovarian failure(POF),which affects nearly 10%of patients seeking fertility treatment.However,less is known about its etiology.DOR can be divided into two groups:physiological DOR and pathological DOR.The etiology of pathological DOR may be multifactorial,including autoimmune,heredity,idiopathic and other factors.Idiopathic DOR may have genetic factors.The purpose of this article is to review the pathological DOR-related gene mutations,gene polymorphisms and telomere length,and to discuss the possible molecular screening and early diagnosis of pathological DOR through molecular genetic and etiological analysis.

关 键 词：原发性卵巢功能不全 突变 多态性 单核苷酸 端粒缩短 卵巢储备功能减退 

分 类 号：R711.75[医药卫生—妇产科学]