在不同种群中,重复扩张突变的频率增加
Kristina Ibañez1, Bharati Jadhav2, Matteo Zanovello3
1William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
medRxiv : the preprint server for health sciences
|July 18, 2023
概括
重复扩张障碍 (REDs) 比以前认为的更常见,影响283人中的1人. 这表明在全球范围内存在严重的诊断不足和不完全的透率.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
- 基因组医学是基因组医学.
背景情况:
- 重复扩张障碍 (REDs) 是一组具有重大全球健康影响的神经系统疾病.
- 由于诊断挑战和有限的数据,目前的红色红色瘤流行率估计可能被低估.
研究的目的:
- 通过大规模的全基因组测序数据,重新评估REDs的流行程度.
- 为了调查全球分布和红色的遗传祖先代表.
主要方法:
- 分析了来自不同种群的82,176名个体的全基因组测序数据.
- 计算疾病等位基因频率并用于模拟REDs的流行率.
- 遗传数据与发病时的年龄和生存信息相结合.
主要成果:
- 确定了283个个体中的1个REDs疾病等位基因的总体频率.
- 模拟的患病率表明,REDs影响的人数是目前报告的人数的两到三倍.
- 在所有主要的遗传祖先中都发现了红色,挑战了特定人口的概念.
结论:
- 在全球范围内,红色瘤的诊断严重不足,其患病率高于此前估计的.
- 这些发现需要重新评估全球REDs的诊断策略和遗传咨询.
- 红色不仅限于特定的人群,影响着不同的遗传祖先.
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