根据父母突变来源进行BRCA植入前遗传测试的结果:一个队列研究
Ilana Weizel1, Tal Shavit2,3, Yulia Shuli4
1The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel.
Reproductive biology and endocrinology : RB&E
|January 3, 2024
概括
不管父母的起源,BRCA基因突变不会影响早期胚胎发育或遗传率. 单一性疾病的植入前遗传测试 (PGT-M) 周期显示,与非携带者相比,BRCA携带者的结果与非携带者相似.
科学领域:
- 生殖生物学和遗传学 生殖生物学和遗传学
- 人类胚胎学和发育生物学
- 癌症倾向和生殖结果的遗传学.
背景情况:
- 配体形成和早期胚胎发育涉及关键的DNA复制和细胞分裂过程.
- BRCA1/2基因突变可能会影响这些基本的生殖过程.
- 了解BRCA突变的父母起源对于评估它们对胚胎发育的影响至关重要.
研究的目的:
- 评估BRCA突变遗传模式及其对早期胚胎发育的影响.
- 根据BRCA突变的父母起源 (母亲与父亲) 具体分析这些影响.
- 为了比较BRCA突变携带者接受单一性疾病 (PGT-M) 植入前遗传测试的结果与非携带者.
主要方法:
- 追溯队列研究分析BRCA1/2突变患者的PGT-M周期与对照组 (肌性缩症,多囊性脏病) 之间的比较.
- 在BRCA和对照组之间比较周期参数,卵细胞产量,胚胎形成和胚胎发育率.
- 通用线性模型分析,以评估突变类型和父母起源对生殖结果的影响.
主要成果:
- 在BRCA和非BRCA PGT-M周期之间,或在母性和父性BRCA起源之间,胚胎受影响率没有显著差异.
- 与非BRCA组相比,母亲的BRCA突变载体的相对卵细胞产量明显较低.
- 紫细胞形成和爆发率没有受到父亲的BRCA突变或父母的BRCA载体起源的显著影响.
结论:
- BRCA PGT-M 周期表现出与非 BRCA 周期相比较的性能.
- 遗传率和关键周期参数不受BRCA突变的父母起源的影响.
- 虽然母体的BRCA携带可能会影响卵细胞产量,但整体的胚胎发育似乎不受BRCA突变父母起源的影响.
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