转位断点的位置,而不是碎片大小,与精子生成功能有关
Yun Wang1,2,3,4,5, Yize Han6, Yuchao Zheng6
1State Key Laboratory of Female Fertility Promotion, Centre for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, People's Republic of China.
Reproduction, fertility, and development
|November 19, 2025
概括
在男性相互转位中,碎片大小不会影响精子数量或怀孕. 然而,断点位置,特别是在1q上,可能会影响精子生成,指导转位载体的遗传咨询.
科学领域:
- 生殖遗传学 生殖遗传学
- 人类遗传学 人类遗传学
- 细胞遗传学 细胞遗传学
背景情况:
- 均衡互换转位的男性携带者面临着精子生产和怀孕的挑战.
- 转位片段特征对这些结果的影响尚未完全理解.
研究的目的:
- 为了确定转位片段大小和断点位置是否与精子功能,胚胎质量和相互转位的男性的怀孕成功相关.
- 评估转位段大小与精子生成功能的关系,胚胎形和怀孕结果.
- 为了研究转位断点位置对精子参数的影响.
主要方法:
- 103对有男性相互转位的夫妇经历了116个植入前遗传测试周期.
- 根据转位细分大小 (<10 Mb vs. ≥10 Mb) 和精子度 (精子少精的严重程度) 分组患者.
- 统计分析根据碎片大小和断点位置对不同组的结果进行了比较.
主要成果:
- 根据碎片大小,在两组之间没有观察到严重的寡头动物精子症,欧囊胚胎发育率或怀孕率的显著差异.
- 具有1q片段转位的夫妇比例更高的是重症寡精子组.
- 转位片段大小与精子度或妊娠结果无关.
结论:
- 男性的自体转位断片大小不是精子度或怀孕结果的重要预测因素.
- 涉及1q片段的转位可能与精子生成受损有关.
- 遗传咨询应强调断点位置,特别是在1q上,以评估男性转位载体中精子生成功能障碍的风险.
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