范可尼贫血相关基因和早发性卵巢功能不全的研究进展  

Research Progress of Fanconi Anemia Related Genes and Premature Ovarian Insufficiency

作　　者：闻星星 柴梦晗 杨倪 杨丹丹 邹慧娟 张文香[1] 陈蓓丽(审校)[1] WEN Xing-xing;CHAI Meng-han;YANG Ni;YANG Dan-dan;ZOU Hui-juan;ZHANG Wen-xiang;CHEN Bei-li(Reproductive Medicine Center,Department of Obstetrics and Gynecology,The First Affiliated Hospital of Anhui Medical University,Hefei 230032,China)

机构地区：[1]安徽医科大学第一附属医院妇产科生殖医学中心,合肥230032

出　　处：《国际妇产科学杂志》2023年第4期450-455,共6页Journal of International Obstetrics and Gynecology

基　　金：国家自然科学基金(82001516)

摘　　要：早发性卵巢功能不全(premature ovarian insufficiency,POI)是引起女性不孕的重要原因,发病率>1%。范可尼贫血(Fanconi anemia,FA)是一种以骨髓衰竭、出生缺陷、癌症倾向以及细胞对DNA链间交联剂敏感性增加为特征的疾病。FA相关基因以其在DNA链间交联修复的重要作用而闻名,已被证明参与生殖细胞发育,约半数的FA女性生育力受损,而FA男性基本上都不能生育。目前为止已经发现至少22个FA相关基因,FA相关基因缺陷小鼠模型的生育力受到不同程度的影响,轻者生育力下降但仍能孕育后代,重者性腺先天异常,完全丧失生育能力。FA相关基因缺陷引起的不孕病例报道也越来越多。原始生殖细胞增殖和减数分裂过程的异常被认为是引起FA患者不孕的主要原因。有研究表明参与减数分裂、DNA损伤修复及有丝分裂的基因是引起POI的一大基因家族。因此,FA相关基因在卵泡发育及生育力维持方面的作用需要得到重视。Premature ovarian insufficiency(POI)is an important cause leading to female infertility with a prevalence of>1%.Fanconi anemia(FA)is a disease characterized by bone marrow failure,birth defects,cancer predisposition,and increased sensitivity to DNA interstrand cross-link agents.The FA related genes,known for their important role in the repair of DNA interstrand cross-links,have been shown to be involved in germ cell development.Approximately half of FA females have impaired fertility,whereas almost FA males are infertile.Up to now,at least 22 FA related genes have been found and identified.The FA gene-deficient mouse models show different effects on reproductive function.In mild cases,the mice could have their offspring despite the fertility being reduced,while in severe cases,the fertility of mice is completely lost with the abnormal gonads congenitally.There are also increasing reports of infertility caused by FA gene defects.Abnormalities in primordial germ cells proliferation and meiosis are considered to be the main causes of infertility in FA patients. Studies have shown that genesinvolved in meiosis, DNA damage repair and mitosis are a large family of genes that cause POI. Therefore, the role of FA genesin follicle development and fertility maintenance needs to be paid more attention.

关 键 词：原发性卵巢功能不全 范可尼贫血 DNA损伤 减数分裂 同源重组 突变 

分 类 号：R711.75[医药卫生—妇产科学]