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评估更新的基因组作为男性和女性不孕不育的诊断工具
Özlem Okutman1, Ali Sami Gürbüz2, Ahmet Salvarci2
1Service de Gynécologie-Obstetrique, Clinique de Fertilité, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), Hôpital Erasme, Route de Lennik, 808, 1070, Brussels, Belgium. ozlem.okutman@hubruxelles.be.
Reproductive sciences (Thousand Oaks, Calif.)
|April 25, 2024
概括
基因分析在12.1%的不孕症患者中发现了致病变异,影响了11%的女性和13%的男性. 这项研究完善了不孕基因的基因疾病关系,有助于生殖医学.
科学领域:
- 生殖医学 生殖医学
- 人类遗传学 人类遗传学
- 基因组学就是基因组学.
背景情况:
- 不孕不育的遗传基础越来越被理解,超越型,同时分析多个基因.
- 基因分析的进步允许同时检查许多与不孕症相关的基因.
研究的目的:
- 报告针对性基因测序在不育患者队列中的诊断产量.
- 根据新的诊断数据,重新评估不孕基因的基因疾病关系 (GDRs).
- 评估导致男性和女性不孕症的遗传变异的流行程度.
主要方法:
- 在两年内对140名患者 (63名女性,77名男性) 进行了诊断活动.
- 采用有针对性的测序来识别致病变异.
- 重新评估基因的GDR,包括新发现的变体和患者数据.
主要成果:
- 在17名患者中确定了致病变体,达到12.1%的整体诊断率.
- 患病率为女性11%,男性13%.
- 根据最新证据重新分类了五种基因,包括MEIOB,TBPL2,SOHLH1,GALNTL5和SEPTIN12.
结论:
- 向基因测序在诊断不孕症方面是有效的,具有显著的诊断产量.
- 重新评估德意志民主共和国 (GDR) 的结果,提升了我们对不孕不育的遗传情景的理解.
- 遗传检测在生殖医学中的整合需要加强遗传咨询和人员配置.
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