在患有阿佐精子不育症的男性中,WT1致病变体具有孤立的未下降丸
Neda Sharifi1,2, Parnaz Borjian Boroujeni2, Kaveh Haratian3
1Department of Basic Science and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran.
Clinical and experimental reproductive medicine
|May 20, 2025
概括
没有下降的丸 (UDT) 与不孕症有关. 在11名不育男性中发现了特定的WT1基因变体rs587776576,这表明它在UDT和男性不育遗传原因中的作用.
科学领域:
- 遗传学 遗传学 是一个
- 生殖医学 生殖医学
- 分子生物学分子生物学
背景情况:
- 未下降的丸 (UDT) 与降低生育能力有关,可能是由于塞尔托利和莱迪格细胞功能受损.
- 威尔姆斯瘤1 (WT1) 基因通过调节塞尔托利细胞极性和莱迪格细胞类固醇生成,在精子生成中发挥着关键作用.
研究的目的:
- 在不育男性中识别与UDT相关的新型WT1基因变异.
- 研究WT1基因变异在男性不孕症病因中的作用.
主要方法:
- 桑格测序WT1基因的编码区域和特定的内基边界在60名不育的男性和60名肥沃的对照中.
- 对已识别的变异进行了无分析.
主要成果:
- 在患者和对照组中都发现了WT1基因的多个内部和外部变异.
- 在11名患者中确诊了一种特定的单双型 (两个异合的C>T变异在外形子9拼接捐赠部位),但不是对照组.
- 变种rs587776576 (NC_000011.10:g.32391967C>T;NM_000378.4:c.1372+14G>A) 在伊朗人口中与不孕症和UDT (p=0.022) 有显著的关联.
结论:
- rs587776576突变是致病性的,与不孕症和UDT有关.
- 这项研究扩大了已知涉及UDT和男性不孕症的WT1变异的范围.
- 这些发现支持WT1基因变异在UDT和不孕不育的遗传基础中的重要性,有助于临床诊断和遗传咨询.
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