DNAH17中的新突变会导致精子鞭缺陷,并对ICSI结果产生影响
Bing Song1,2,3,4,5, Tianjin Yang1, Qunshan Shen1,2,3,4,5
1Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China.
Journal of assisted reproduction and genetics
|August 13, 2023
概括
新的DNAH17突变导致男性不孕症和严重的精子鞭毛缺陷. 辅助卵细胞激活 (AOA) 的细胞内精子注射 (ICSI) 可以改善受影响男性的妊娠结果.
科学领域:
- 生殖医学 生殖医学
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
背景情况:
- DNAH17基因突变与男性不孕症有关.
- 精子旗多重形态异常 (MMAF) 是一种与某些遗传缺陷相关的表型.
- 了解DNAH17的作用对于诊断和治疗男性因子不孕症至关重要.
研究的目的:
- 识别导致男性不孕症的新型DNAH17突变.
- 分析DNAH17突变患者的细胞内精子注射 (ICSI) 结果.
- 研究DNAH17变异对精子形态和功能的影响.
主要方法:
- 精液分析和遗传检测发现了5例具有新的DNAH17突变和MMAF表型的病例.
- 一项文献综述系统地探索了DNAH17突变和ICSI结果.
- 分析了来自21名患有DNAH17突变的患者的数据.
主要成果:
- 在患有MMAF的不孕男性中发现了三种新型化合物DNAH17突变.
- DNAH17变异与精和男性不孕症有关,不同的变异影响不同的精子表型.
- 在接受ICSI的11对夫妇中,只有3人获得了临床怀孕,成功与ICSI与辅助卵细胞激活 (AOA) 相结合.
结论:
- 功能丧失的DNAH17突变会导致严重的精子鞭毛缺陷和男性不孕症.
- 患有MMAF和DNAH17突变的患者表现出较差的ICSI妊娠结果.
- 与AOA结合的ICSI显示有可能提高DNAH17变异的男性的辅助生殖技术 (ART) 成功率.
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