Mukhtar Mahwash, Sargazi Saman, Barani Mahmood, Madry Henning, Rahdar Abbas, Cucchiarini Magali
Faculty of Pharmacy, Institute of Pharmaceutical Technology and Regulatory Affairs, University of Szeged, 6720 Szeged, Hungary.
Cellular and Molecular Research Center, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan 98167-43463, Iran.
Nanomaterials (Basel). 2021 May 24;11(6):1384. doi: 10.3390/nano11061384.
Single-nucleotide polymorphisms (SNPs) are the simplest and most common type of DNA variations in the human genome. This class of attractive genetic markers, along with point mutations, have been associated with the risk of developing a wide range of diseases, including cancer, cardiovascular diseases, autoimmune diseases, and neurodegenerative diseases. Several existing methods to detect SNPs and mutations in body fluids have faced limitations. Therefore, there is a need to focus on developing noninvasive future polymerase chain reaction (PCR)-free tools to detect low-abundant SNPs in such specimens. The detection of small concentrations of SNPs in the presence of a large background of wild-type genes is the biggest hurdle. Hence, the screening and detection of SNPs need efficient and straightforward strategies. Suitable amplification methods are being explored to avoid high-throughput settings and laborious efforts. Therefore, currently, DNA sensing methods are being explored for the ultrasensitive detection of SNPs based on the concept of nanotechnology. Owing to their small size and improved surface area, nanomaterials hold the extensive capacity to be used as biosensors in the genotyping and highly sensitive recognition of single-base mismatch in the presence of incomparable wild-type DNA fragments. Different nanomaterials have been combined with imaging and sensing techniques and amplification methods to facilitate the less time-consuming and easy detection of SNPs in different diseases. This review aims to highlight some of the most recent findings on the aspects of nanotechnology-based SNP sensing methods used for the specific and ultrasensitive detection of low-concentration SNPs and rare mutations.
单核苷酸多态性(SNPs)是人类基因组中最简单、最常见的DNA变异类型。这类引人注目的遗传标记与点突变一起,与多种疾病的发生风险相关,包括癌症、心血管疾病、自身免疫性疾病和神经退行性疾病。现有的几种检测体液中SNPs和突变的方法存在局限性。因此,需要专注于开发无创的、未来无需聚合酶链反应(PCR)的工具,以检测此类样本中低丰度的SNPs。在大量野生型基因背景下检测低浓度的SNPs是最大的障碍。因此,SNPs的筛选和检测需要高效且直接的策略。人们正在探索合适的扩增方法,以避免高通量设置和繁琐的工作。因此,目前正在探索基于纳米技术概念的DNA传感方法,用于超灵敏检测SNPs。由于其尺寸小和表面积增加,纳米材料具有广泛的能力,可在存在大量野生型DNA片段的情况下,用作基因分型中的生物传感器以及单碱基错配的高灵敏识别。不同的纳米材料已与成像和传感技术以及扩增方法相结合,以促进在不同疾病中更省时、更轻松地检测SNPs。本综述旨在突出基于纳米技术的SNP传感方法在低浓度SNPs和罕见突变的特异性和超灵敏检测方面的一些最新发现。