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少弱畸精子症的遗传基础

Genetic Underpinnings of Oligoasthenoteratozoospermia.

作者信息

Feng Yanting, Liu Wensheng, Dong Junbo, Lu Fei, Wu Chunyan, Shao Qingting, Duan Aizhu, Yang Xinjie, Sun Ruipeng, Sha Yanwei, Wu Shihao, Wei Xiaoli

机构信息

School of Medicine, Yunnan University, Kunming, Yunnan, China.

Department of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, China.

出版信息

Clin Genet. 2025 Mar;107(3):243-260. doi: 10.1111/cge.14652. Epub 2025 Jan 8.

Abstract

Oligoasthenoteratozoospermia (OAT) is a frequent but severe type of male infertility. As one of the most multifaceted male infertility resulting from sperm problems, its genetic etiology remains unknown in most cases. In this review, we systematically sort out the latest literature on clinical reports and animal models leading to OAT, summarise the expression profiles of causative genes for OAT, and highlight the important role of the protein transport system during spermiogenesis, spermatid cell-specific genes, Golgi and acrosome-related genes, manchette-related genes, HTCA-related genes, and axoneme-related genes in OAT development. These causative genes would be instrumental in genetic etiological screening, genetic counseling, and pre-implantation genetic testing of patients with clinical OAT.

摘要

少弱畸精子症(OAT)是一种常见但严重的男性不育类型。作为由精子问题导致的最复杂的男性不育症之一,在大多数情况下其遗传病因仍不清楚。在本综述中,我们系统梳理了导致OAT的临床报告和动物模型的最新文献,总结了OAT致病基因的表达谱,并强调了蛋白质转运系统在精子发生过程中的重要作用、精子细胞特异性基因、高尔基体和顶体相关基因、袖套相关基因、HTCA相关基因以及轴丝相关基因在OAT发生发展中的作用。这些致病基因将有助于对临床OAT患者进行遗传病因筛查、遗传咨询和植入前基因检测。

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