核体单点突变与 SARS-CoV-2 检测RT-PCR测定中断相关
Fernanda de Mello Malta1, Deyvid Amgarten1, Alexandre Rodrigues Marra1
1Laboratório Clínico - Hospital Israelita Albert Einstein, Av. Albert Einstein, 627/701, Sao Paulo, SP, 05651-901, Brazil.
BMC infectious diseases
|October 23, 2023
概括
在SARS-CoV-2核基因 (C29197T) 中的一种特定突变导致了Xpert® Xpress SARS-CoV-2 RT-PCR测试中的假阴性结果. 基因组监测对于更新诊断测试和疫苗至关重要.
科学领域:
- 病毒学 病毒学
- 基因组学就是基因组学.
- 分子诊断学 分子诊断
背景情况:
- 由于病毒的新型性质,SARS-CoV-2流行病对临床和分子诊断提出了重大挑战.
- 全基因组测序对于特征SARS-CoV-2和基因组监测至关重要,以确定对疫苗和诊断的潜在影响.
研究的目的:
- 为了调查RT-PCR测试中SARS-CoV-2检测失败的原因.
- 为了确定SARS-CoV-2中可能影响诊断试验性能的特定遗传变异.
主要方法:
- 从患者样本中提取核酸 (NP和OP扫描).
- 随机放大RNA,然后进行全基因组测序.
- 生物信息分析包括质量控制,人体DNA去除和基因组组装.
- 使用Xpert® Xpress SARS-CoV-2 RT-PCR试验进行分子诊断.
主要成果:
- 27个SARS-CoV-2阳性样本在Cepheid Xpert® Xpress测定中表现出核体 (N) 基因脱落.
- 其中两个样本的测序揭示了N基因中常见的C29197T突变,可能是检测失败的原因.
结论:
- 基因组数据对于保持分子诊断测试的准确性至关重要.
- 持续的基因组监测是必要的,以告知诊断试验和疫苗的更新,以应对病毒演变.
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