卵母细胞成熟障碍研究进展

doi:10.6040/j.issn.1671-7554.0.2018.206

摘要/Abstract

摘要： 卵母细胞成熟经历恢复减数分裂、生殖泡消失、排出极体等一系列复杂的生理变化与分子调节等过程,方能获得受精并发育成新个体的潜能。当卵母细胞因各种原因导致上述成熟过程发生异常时,卵母细胞无法成熟,无法完成受精过程,从而导致不孕。随着二代测序技术的广泛应用,围绕人卵发育成熟障碍的遗传病因学研究取得突破,先后发现多个与卵母细胞成熟障碍相关的致病基因,其研究方法与思路有助于推动人卵母细胞成熟障碍的遗传与分子机制研究的进一步深入。

关键词: 卵母细胞成熟障碍, 不孕, 减数分裂, 全外显子测序, 基因突变

Abstract: Oocyte maturation has undergone a series of complex physiological changes and molecular regulation processes, such as meiosis resumption, germinal vesicle breakdown and expulsion of first polar body to acquire the potential of fertilization and development into a new individual. Oocytes cannot mature and be fertilized when the procedure above is impeded for various reasons, thus lead to human infertility. With the wide application of the second generation sequencing technology, the research of genetic etiology of developmental disorder and maturation arrest of human oocyte has 山东大学学报 (医学版)56卷4期 -肖红梅. 卵母细胞成熟障碍研究进展 \=-made a breakthrough: several causal mutations of different genes leading to human oocyte maturation arrest have been identified recently. The methods and ideas of these researches are helpful to deepen the study of the genetic and molecular mechanisms of human oocyte maturation failure.

Key words: Oocyte maturation failure, Infertility, Meiosis, Whole exome sequencing, Gene mutation

中图分类号:

R310.27

肖红梅. 卵母细胞成熟障碍研究进展[J]. 山东大学学报 (医学版), 2018, 56(4): 18-22.

XIAO Hongmei. Advance in genetic study on oocyte maturation failure[J]. Journal of Shandong University (Health Sciences), 2018, 56(4): 18-22.

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