二皮里米丁脱酶测试:捕捉标准基因型定型在下一代测序中错过了什么
Maxime Sourdioux1, Mohamed Ksentini2, Dorian Chastagner2
1Faculty of Pharmacy, University of Limoges, Limoges, France.
Pharmacogenomics
|January 16, 2026
概括
下一代DPYD基因测序识别了罕见的变异和拷贝数变异,改善了对二胺脱酶 (DPD) 缺乏症的遗传评估,并预防了胺毒性.
科学领域:
- 药物基因组学 药物基因组学
- 临床遗传学 临床遗传学
- 酶缺乏症 酶缺乏症
背景情况:
- 欧洲药物管理局 (EMA) 和美国食品和药物管理局 (FDA) 建议对二皮里米丁脱酶 (DPD) 缺乏症进行查,以防止皮里米丁的毒性.
- 目前的查依赖于表型或基因型,国家准则各不相同.
- 这项研究研究了DPYD测序对识别功能变异的有用性.
研究的目的:
- 评估DPYD测序在识别影响酶功能的未报告变异方面的好处.
- 改进对DPD缺陷的遗传评估.
- 为了加强预防胺诱导的毒性.
主要方法:
- 对DPYD下一代测序 (NGS) 数据的回顾性分析.
- 包括来自利莫日大学医院的1145名个人 (2020年11月 - 2025年7月).
- 鉴定和分类DPYD变异,包括罕见和副本数变异 (CNVs).
主要成果:
- 确定了51种DPYD变异,包括罕见的和CNVs.
- 73个个体 (6.3%) 携带功能下降的等位基因;28个 (2.4%) 具有潜在的破坏性罕见/结构变异 (5 CNV).
- 八种变体的CPIC得分表明活动减少/无;31种没有CPIC注释.
结论:
- NGS分析确定了具有潜在功能影响的DPYD罕见/结构变异.
- 这有助于更好地对DPD缺陷进行遗传评估.
- 改进的遗传评估有助于预防胺的毒性.
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