早发性卵巢功能不全与DNA损伤修复、减数分裂相关基因的研究进展

doi:10.12280/gjszjk.20200624

摘要/Abstract

摘要：

早发性卵巢功能不全（premature ovarian insufficiency,POI）是一种女性常见的内分泌疾病,该疾病不仅可以导致骨质疏松、心血管疾病和月经异常,还严重影响育龄期女性的生育能力。随着全外显子组和基因组测序的快速发展,研究发现POI的致病因素与减数分裂及DNA损伤修复过程中的多种基因有关。了解POI的致病因素有利于临床上的诊断及治疗。综述POI的发生与减数分裂、DNA损伤修复过程中的基因及其突变的研究进展。

关键词: 原发性卵巢功能不全, 突变, 减数分裂, DNA修复, 卵巢早衰, 早发性卵巢功能不全

Abstract:

Premature ovarian insufficiency (POI) is a common endocrine disease in women, which can not only lead to osteoporosis, cardiovascular diseases and abnormal menstruation, but also seriously affect the fertility of women of childbearing age. With the rapid development of exome and genome sequencing, many genes involved in meiosis and DNA damage repair in the POI pathogenesis were found. The pathogenic factors of this disease are complex, so understanding the pathogenic factors is beneficial to clinical diagnosis and treatment. In this paper, the research progress of related genes and mutations in the early onset ovarian insufficiency, meiosis and DNA damage repair was reviewed.

Key words: Primary ovarian insufficiency, Mutation, Meiosis, DNA repair, Premature ovarian failure, Premature ovarian insufficiency

王凯娟, 陈蓓丽, 朱琦, 曹云霞, 章志国. 早发性卵巢功能不全与DNA损伤修复、减数分裂相关基因的研究进展[J]. 国际生殖健康/计划生育, 2021, 40(3): 221-225.

WANG Kai-juan, CHEN Bei-li, ZHU Qi, CAO Yun-xia, ZHANG Zhi-guo. Recent Advances in Genes Involved in DNA Damage Repair and Meiosis Undergoing Premature Ovarian Insufficiency[J]. Journal of International Reproductive Health/Family Planning, 2021, 40(3): 221-225.

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