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基于低覆盖率下一代测序的植入前遗传测试的临床应用与遗传性听力损失家族的链接分析

Wenjing Wang^1,2,3, Jing Guan^2,3, Minyue Ma⁴

¹School of Medicine, Nankai University, Tianjin, 300071, China.

Journal of assisted reproduction and genetics

|May 19, 2025

概括

植入前遗传检测 (PGT) 有效地防止遗传性听力损失 (HHL) 的传播. 在HHL的PGT中,怀孕的成功取决于父母的年龄和胚胎质量,为受影响的家庭提供希望.

科学领域:

遗传学是一个遗传学.
生殖医学生殖医学
基因组医学是基因组医学.

背景情况:

遗传性听力损失 (HHL) 对家庭来说是一个重大的遗传挑战.
植入前遗传检测 (PGT) 提供了一种潜在的解决方案,可以防止与聋相关的突变的传播.
了解影响PGT成功的因素对于临床应用至关重要.

研究的目的:

评估PGT在遗传性听力损失中的临床疗效.
为了确定影响妊娠结果的因素,在PGT中对HHL进行检测.
为临床实践提供基于证据的指导.

主要方法:

从2015年1月到2024年4月,对19对从2015年1月到2024年4月为HHL接受PGT的夫妇进行了回顾性分析.
基因咨询和胚胎基因定型使用低覆盖测序和SNP链接分析.
怀孕和分娩的后续情况.

主要成果:

PGT成功地发现了常见HHL基因 (GJB2,SLC26A4,USH2A,CDH23,MITF,WFS1,GSDME) 的突变.
通过对205个听力损失基因进行足够的测序深度,实现了高胚胎诊断率 (93.33%).
临床怀孕率为57.89%,有8名健康的新生儿出生. 父母的年龄和胚胎细胞数量影响了结果.

结论:

PGT有效地防止了聋突变的传播.
低覆盖度测序与链接分析为HHL提供了可靠的遗传诊断.
父母年龄和卵细胞检索数量是PGT在HHL成功的关键预后指标.

关键词:

遗传性听力损失是一种遗传性听力损失.链接分析分析链接分析.低覆盖范围的测序.在植入前进行遗传检测.

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