Department of Biomedical Engineering, The Technion-IIT, Haifa 32000, Israel.
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, United States.
ACS Nano. 2020 Oct 27;14(10):13964-13974. doi: 10.1021/acsnano.0c06375. Epub 2020 Sep 23.
RNA quantification methods are broadly used in life science research and in clinical diagnostics. Currently, real-time reverse transcription polymerase chain reaction (RT-qPCR) is the most common analytical tool for RNA quantification. However, in cases of rare transcripts or inhibiting contaminants in the sample, an extensive amplification could bias the copy number estimation, leading to quantification errors and false diagnosis. Single-molecule techniques may bypass amplification but commonly rely on fluorescence detection and probe hybridization, which introduces noise and limits multiplexing. Here, we introduce reverse transcription quantitative nanopore sensing (RT-qNP), an RNA quantification method that involves synthesis and single-molecule detection of gene-specific cDNAs without the need for purification or amplification. RT-qNP allows us to accurately quantify the relative expression of metastasis-associated genes MACC1 and S100A4 in nonmetastasizing and metastasizing human cell lines, even at levels for which RT-qPCR quantification produces uncertain results. We further demonstrate the versatility of the method by adapting it to quantify severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RNA against a human reference gene. This internal reference circumvents the need for producing a calibration curve for each measurement, an imminent requirement in RT-qPCR experiments. In summary, we describe a general method to process complicated biological samples with minimal losses, adequate for direct nanopore sensing. Thus, harnessing the sensitivity of label-free single-molecule counting, RT-qNP can potentially detect minute expression levels of RNA biomarkers or viral infection in the early stages of disease and provide accurate amplification-free quantification.
RNA 定量方法广泛应用于生命科学研究和临床诊断。目前,实时逆转录聚合酶链反应(RT-qPCR)是 RNA 定量最常用的分析工具。然而,在稀有转录本或样本中存在抑制性污染物的情况下,广泛的扩增可能会导致拷贝数估计出现偏差,从而导致定量错误和误诊。单分子技术可以绕过扩增,但通常依赖于荧光检测和探针杂交,这会引入噪声并限制多重检测。在这里,我们介绍了逆转录定量纳米孔传感(RT-qNP),这是一种 RNA 定量方法,它涉及基因特异性 cDNA 的合成和单分子检测,而无需纯化或扩增。RT-qNP 使我们能够准确地定量非转移和转移人类细胞系中转移相关基因 MACC1 和 S100A4 的相对表达水平,即使在 RT-qPCR 定量产生不确定结果的水平也是如此。我们进一步通过将其适应于针对人类参考基因定量严重急性呼吸综合征冠状病毒 2(SARS-CoV-2)RNA,展示了该方法的多功能性。这种内部参考避免了为每次测量制作校准曲线的需要,这是 RT-qPCR 实验的迫切要求。总之,我们描述了一种通用方法,可在最小损失的情况下处理复杂的生物样本,足以直接进行纳米孔传感。因此,利用无标记单分子计数的灵敏度,RT-qNP 有可能在疾病早期检测到 RNA 生物标志物或病毒感染的微小表达水平,并提供无扩增的准确定量。