双基因组下一代测序小组测试线粒体疾病的经验:全面的分子诊断
Elizabeth Gorman1, Hongzheng Dai1,2, Yanming Feng1
1Baylor Genetics, Houston, TX, United States.
Frontiers in genetics
|March 20, 2025
概括
双基因组下一代测序 (NGS) 测试为线粒体疾病实现了14.6%的诊断产量,在核和线粒体DNA中确定了致病变体. 这种全面的方法有助于诊断复杂的遗传疾病.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 线粒体疾病由于遗传异质性和异质质性而存在诊断挑战.
- 线粒体和核基因组的下一代测序 (NGS) 提供了一个全面的诊断策略.
研究的目的:
- 评估双基因组小组测试对线粒体疾病的临床效用和诊断产量.
- 评估核和线粒体DNA变异对诊断的贡献.
主要方法:
- 对1509名疑似患有线粒体疾病的患者进行了回顾性审查.
- 线粒体基因组的NGS和163个核基因的向面板.
- 对变异的诊断产量,基因贡献和异质体水平的分析.
主要成果:
- 总的诊断收益率为14.6%,其中7.7%来自核基因和6.9%来自线粒体DNA.
- 在既定和新型核基因中确定了致病性/可能致病性变体.
- 核和线粒体基因组变异对诊断产量有同等的贡献.
结论:
- 双基因组NGS测试为线粒体疾病提供了高的诊断产量.
- 与单个基因组测试相比,这种方法是一种有价值的第一级诊断策略.
- 了解变异贡献和异质体增强了诊断能力.
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