Application of Nanotechnology for Sensitive Detection of Low-Abundance Single-Nucleotide Variations in Genomic DNA: A Review.

Mahwash Mukhtar,Saman Sargazi,Mahmood Barani,Henning Madry,Magali Cucchiarini,Abbas Rahdar

doi:10.3390/nano11061384

Abstract

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.

Highlights

Unlike traditional DNA restriction fragment length polymorphisms (RFLPs) or polymerase chain reaction (PCR)–based markers that depend on unified detection methods, SNPs can be identified using various methods, with new ones emerging every year
SNP detection strategies were initially focused on gel electrophoresis, such as cleaved amplified polymorphic sequence (CAPS) labeling [82], allele-specific PCR (AS-PCR) [83], PCR-single-strand conformation polymorphism (PCR-SSCP) [84], and denatured gradient gel electrophoresis (DGGE) [85], among others
The results demonstrated that the horseradish (HRP)

Summary

Introduction

Modern diagnostic methods have shown better performance than conventional methods. The focus has moved beyond the conventional clinical therapies and gravitated toward individualized therapies, termed “personalized medicine” [1,2,3,4,5]. Personalized medicine is a wide-ranging and expeditiously advancing field in health care that provides remarkable access to each patient’s unique genetic, genomic, and clinical characteristics [6]. This new trend in medicine called “precision medicine”, addresses distinctive molecular defects present in thousands of genetic abnormalities via the application of various technologies [7]

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Conclusion