遗传

• 综述 •    

男性不育的遗传学研究进展【江苏省遗传学会专刊】

张星雨,祝天喻,张清荣,郭雪江,王铖,靳光付,胡志斌   

  1. 南京医科大学
  • 收稿日期:2020-12-17 修回日期:2021-04-06 出版日期:2021-04-07 发布日期:2021-04-07
  • 通讯作者: 胡志斌
  • 基金资助:
    国家重点研发计划项目

The progress in the studies of male infertility

Zhibing Hu2   

  • Received:2020-12-17 Revised:2021-04-06 Online:2021-04-07 Published:2021-04-07
  • Contact: Zhibing Hu

摘要: 育龄人群中约15%的夫妻被不孕不育困扰,其中男方因素导致的不孕不育约占一半。男性不育通常表现为少、弱、畸形精子症,最严重的是无精子症。近年来,随着高通量芯片和测序技术的快速发展,男性不育遗传学因素得以深入的揭示与解析,一系列致病基因的发现,促进了男性不育病理机制的阐明。全面而深入地了解男性不育中的遗传因素,在男性不育的诊断、临床治疗和遗传咨询中也具有重要的意义。 关键词:男性不育;遗传因素;非梗阻性无精子症;精子畸形;鞭毛多发性形态异常;原发性纤毛运动障碍。

关键词: 男性不育, 遗传因素, 非梗阻性无精子症, 精子畸形, 鞭毛多发性形态异常, 原发性纤毛运动障碍。

Abstract: About 15% couples suffer from infertility, half of which are caused by male factors. Male infertility usually manifests as teratozoospermia, oligospermia and/or asthenospermia, of which the most severe form is azoospermia. Recently, with the fast development of high-throughput chips and sequencing technologies, many genetic factors of male infertility have been discovered and analyzed. The discovery of a series of disease genes helped the characterization of the pathological mechanisms of male infertility. Therefore, a comprehensive and in-depth understanding of genetic factors in male infertility will play important roles in the clinical diagnosis, treatment and genetic counseling of male infertility.

Key words: male infertility, genetics, Nonobstructive azoospermia (NOA), teratozoospermia, Multiple morphological abnormalities of the flagella (MMAF), primary ciliary dyskinesia (PCD)