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在植入前进行罕见线粒体DNA突变的遗传测试后成功分娩 m.10197G>A

Yuki Mizuguchi^1,2, Kou Sueoka^3,4, Suguru Sato¹

¹Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.

Human genome variation

|March 31, 2025

概括

这项研究报告了第一次在植入前基因检测罕见的利脑病变突变后活产. 胚胎显示出极高的突变负载,这表明偏斜的分离模式可能发生在罕见的变异.

科学领域:

人类遗传学人类遗传学
生殖医学生殖医学
神经学神经学

背景情况:

李脑病是一种严重的,罕见的神经退行性疾病.
已知m.10197G>A突变是导致利脑病变的原因之一.
植入前遗传检测 (PGT) 用于查胚胎的遗传疾病.

研究的目的:

报告第一个成功怀孕和活产后PGT的m.10197G>A突变.
为了研究胚胎中这种罕见突变的分离模式.

主要方法:

进行了植入前遗传测试 (PGT),以评估胚胎是否存在m.10197G>A突变.
胚胎的诊断是基于突变负载.
使用了遗传咨询和体外受精 (IVF).

主要成果:

第一个成功的活产发生在PGT后的m.10197G>A突变.
PGT发现一个突变负载<5%的胚胎,导致活产.
胚胎表现出倾斜的分离模式,突变负载集中在极端.

结论:

PGT是一种可行的选择,可以防止罕见的导致利脑病变的突变传播.
以前在常见突变中观察到的斜分离模式,也可能发生在罕见的突变中,如m.10197G>A.
这一案例凸显了考虑在PGT中对罕见遗传变异进行倾斜分离的重要性.

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