Institute of Nanotechnology and Microsystems Engineering, National Cheng Kung University, Tainan, 701, Taiwan.
Analyst. 2010 Jul;135(7):1499-518. doi: 10.1039/c000037j. Epub 2010 Apr 14.
The rapid diagnosis of various diseases is a critical advantage of many emerging biomedical tools. Due to advances in preventive medicine, tools for the accurate analysis of genetic mutation and associated hereditary diseases have attracted significant interests in recent years. The entire diagnostic process usually involves two critical steps, namely, sample pre-treatment and genetic analysis. The sample pre-treatment processes such as extraction and purification of the target nucleic acids prior to genetic analysis are essential in molecular diagnostics. The genetic analysis process may require specialized apparatus for nucleic acid amplification, sequencing and detection. Traditionally, pre-treatment of clinical biological samples (e.g. the extraction of deoxyribonucleic acid (DNA) or ribonucleic acid (RNA)) and the analysis of genetic polymorphisms associated with genetic diseases are typically a lengthy and costly process. These labor-intensive and time-consuming processes usually result in a high-cost per diagnosis and hinder their practical applications. Besides, the accuracy of the diagnosis may be affected owing to potential contamination from manual processing. Alternatively, due to significant advances in micro-electro-mechanical-systems (MEMS) and microfluidic technology, there are numerous miniature systems employed in biomedical applications, especially for the rapid diagnosis of genetic diseases. A number of advantages including automation, compactness, disposability, portability, lower cost, shorter diagnosis time, lower sample and reagent consumption, and lower power consumption can be realized by using these microfluidic-based platforms. As a result, microfluidic-based systems are becoming promising platforms for genetic analysis, molecular biology and for the rapid detection of genetic diseases. In this review paper, microfluidic-based platforms capable of identifying genetic sequences and diagnosis of genetic mutations are surveyed and reviewed. Some critical issues with the use of microfluidic-based systems for diagnosis of genetic diseases are also highlighted.
许多新兴的生物医学工具的一个关键优势是能够快速诊断各种疾病。由于预防医学的进步，用于准确分析基因突变和相关遗传疾病的工具近年来引起了极大的关注。整个诊断过程通常涉及两个关键步骤，即样本预处理和基因分析。在遗传分析之前，目标核酸的提取和纯化等样本预处理过程在分子诊断中是必不可少的。遗传分析过程可能需要专门的仪器来进行核酸扩增、测序和检测。传统上，临床生物样本（如脱氧核糖核酸 (DNA) 或核糖核酸 (RNA) 的提取）的预处理以及与遗传疾病相关的遗传多态性的分析通常是一个漫长而昂贵的过程。这些劳动密集型和耗时的过程通常导致每个诊断的成本很高，并阻碍了它们的实际应用。此外，由于潜在的人为处理污染，诊断的准确性可能会受到影响。或者，由于微机电系统 (MEMS) 和微流控技术的显著进步，生物医学应用中采用了许多微型系统，特别是用于快速诊断遗传疾病。使用这些基于微流控的平台可以实现自动化、紧凑化、一次性使用、便携性、低成本、更短的诊断时间、更低的样本和试剂消耗以及更低的功耗等诸多优势。因此，基于微流控的系统正在成为遗传分析、分子生物学和遗传疾病快速检测的有前途的平台。在这篇综述论文中，对能够识别遗传序列和诊断遗传突变的基于微流控的平台进行了调查和综述。还强调了使用基于微流控的系统诊断遗传疾病的一些关键问题。
