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

作　　者：闫佳璐 杨珂 王璟琦 Yan Jialu;Yang Ke;Wang Jingqi(Shanxi Medical University,Taiyuan 030000,Shanxi,China;The Second Hospital of Shanxi Medical University,Taiyuan 030000,Shanxi,China;Male Reproductive Health Research Center,Shanxi Medical University,Taiyuan 030000,Shanxi,China)

机构地区：[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 [3]山西医科大学男性生殖健康研究中心,山西太原030000

出　　处：《中国男科学杂志》2024年第5期125-129,135,共6页Chinese Journal of Andrology

基　　金：山西省自然科学研究项目(面上)(202303021221203)。

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。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 

分 类 号：R698.2[医药卫生—泌尿科学] R394.112[医药卫生—外科学]