在PADI6中,一种新的同卵性变异与人类裂解阶段的胚胎停产有关
Guangyi Cao1,2, Xiangyu Zhu1, Yuling Lin3
1Center for Reproductive Medicine and Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Frontiers in genetics
|September 15, 2023
概括
一种特定的PADI6基因变异 (R132C) 在女性不孕症患者中导致早期胚胎停产. 这一发现加深了对不孕不育的遗传原因的理解.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 分子生物学分子生物学
背景情况:
- 胚胎发育停止对不孕症患者来说是一个重大挑战,其遗传基础通常是未知的.
- 重复未能获得可用的胚胎会影响患者的结果,需要进一步调查潜在原因.
研究的目的:
- 为了确定胚胎发育停止的遗传原因,在患有反复植入失败的患者中.
- 研究PADI6基因及其变异在人类早期胚胎发育中的作用.
主要方法:
- 详细的每日摄影记录胚胎发育到四细胞阶段.
- 整体外基因组测序以识别遗传变异.
- 对PADI6基因变异的生物信息分析,用于跨物种保护和结构蛋白的影响.
主要成果:
- 在PADI6基因中发现了一种同卵性变异 (NM_207421.4,c.394C>T(p.R132C),特别是在蛋白质-氨酸减小酶域内.
- 这种同卵性PADI6 R132C变体在不同物种中高度保存.
- 这种已识别的变体与女性患者的分裂阶段胚胎停产有很强的关联.
结论:
- 同卵性PADI6 R132C变体是人类分裂阶段胚胎停产的致病因素.
- 这一发现突显了PADI6基因在成功胚胎发育中的关键作用.
- 这项研究有助于了解女性不孕症的分子遗传基础,并可能为未来的诊断方法提供信息.
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