非梗阻性无精子症减数分裂过程中单基因突变机制研究进展
Research progress on the mechanism of single gene mutation during meiosis in non-obstructive azoospermia
闫佳璐 1杨珂 2王璟琦2
作者信息
- 1. 山西医科大学(山西太原 030000)
- 2. 山西医科大学第二医院泌尿外科(山西 太原 030000);山西医科大学男性生殖健康研究中心(山西 太原 030000)
- 折叠
摘要
非梗阻性无精子症(NOA)在男性不育症中占有很大比重,其发病机制不明确,导致NOA患者治愈难度很大.目前对于NOA遗传变异方面的研究有限,NOA患者在临床诊断中仍需进行睾丸穿刺活检,这可能给患者带来不必要的损伤.越来越多的NOA病例报道表明,减数分裂过程中单基因突变是NOA的重要原因之一.本文就目前已经报道的NOA减数分裂过程中单基因突变机制进行综述,以期对今后的临床治疗提供一定的参考.
Abstract
Non-obstructive azoospermia(NOA)occupies a large proportion of male infertility,and NOA is difficult to be cured due to its unclear pathogenesis.At present,there is limited research on NOA genetic variation,and it is still inevitable for NOA patients to undergo testicular puncture biopsy in clinical diagnosis,which may cause unnecessary damage to the patients.An increasing reports on NOA suggest that single-gene mutations during meiosis is one of the important causes of NOA occurrence.In this article,we review and summarize the mechanisms of single-gene mutation in NOA meiosis for providing reference for the clinical treatment.
关键词
不育,男性/无精子症/减数分裂/联会复合体Key words
infertility,male/azoospermia/meiosis/synaptonemal complex引用本文复制引用
基金项目
山西省自然科学研究项目(面上)(202303021221203)
出版年
2024
NETL
NSTL
万方数据