Decision Applications Division, Mail Stop C936, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
Expert Rev Mol Diagn. 2012 Jul;12(6):645-59. doi: 10.1586/erm.12.60.
In recent years, there has been an explosion of molecular tests developed to diagnose human disease, including tests to detect disease-causing pathogens, human genetic or protein markers indicative of disease (e.g., cancer and autoimmune disease), and genetic markers for predisposition to disease. Significant features of nucleic acid-based tests include high sensitivity and specificity, and the ability to multiplex or interrogate more than one marker simultaneously in each sample. Multiplex assays provide cost and information content advantages, and therefore allow for higher confidence results than singleplex assays. This article reviews the current state of the art in multiplexed nucleic acid-based techniques used for diagnosis of human disease and provides a glimpse of promising techniques for the future.
近年来，已经开发出许多用于诊断人类疾病的分子测试，包括检测致病病原体、疾病相关的人类遗传或蛋白质标志物（例如癌症和自身免疫性疾病）以及疾病易感性的遗传标志物的测试。核酸检测的显著特点包括高灵敏度和特异性，以及在每个样本中同时对多个标志物进行多重或询问的能力。多重分析提供了成本和信息量的优势，因此比单重分析提供了更高的置信度结果。本文综述了用于诊断人类疾病的多重化核酸技术的最新进展，并展望了未来有前途的技术。
