与男性和女性不孕症相关的新型和复发性遗传变异
Katarzyna K Jankowska1, Anna Kutkowska-Kazmierczak2, Klaudia Ślusarczyk2
1Department of Endocrinology, Center of Postgraduate Medical Education, Bielanski Hospital, Warsaw, Poland.
Journal of applied genetics
|January 14, 2025
概括
使用下一代测序的基因测试在29%患有不孕症或延迟青春期的患者中确定了致病变体. 这项研究扩大了对这些生殖健康状况的遗传原因的理解.
科学领域:
- 生殖医学 生殖医学
- 人类遗传学 人类遗传学
- 基因组医学是基因组医学.
背景情况:
- 对许多患者来说,不孕不育和延迟青春期的遗传基础在很大程度上是未知的.
- 下一代测序 (NGS) 显著提升了对这些疾病的遗传原因的识别.
研究的目的:
- 为了在患有孤立不育或青春期延迟的患者中识别新型和复发性致病性/可能致病性变异.
- 用一种有针对性的NGS方法在一组患有各种生殖问题的患者中进行基因分析.
主要方法:
- 分析了41名患者 (36名男性,5名女性) 的队列,这些患者患有包括性性性症,高性性症,精子参数异常,雄激素不敏感综合征和46,XY淋巴腺异位症等疾病.
- 针对性NGS采用35个与生育相关的基因小组,对所有被录取的患者进行了针对性NGS.
主要成果:
- 在41名患者中,有12名患者 (29%) 发现了致病性或可能致病性变体,这解释了他们的临床表型.
- 高诊断收益率被观察到在性性性症 (75%) 和雄激素不敏感综合征 (66%).
- 确定了18种变异,包括4种新型变异 (FGF8,SEMA3A,FGFR1,NSMF) 和14种复发变异.
结论:
- 这项研究增强了对不孕症和相关疾病遗传基础的理解.
- 基因检测对于准确的诊断和在患有生殖健康挑战的患者中提供有效的遗传咨询至关重要.
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