Toward non-enzymatic ultrasensitive identification of single nucleotide polymorphisms by optical methods

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Single nucleotide polymorphisms (SNPs) are single nucleotide variations which comprise the most wide spread source of genetic diversity in the genome. Currently, SNPs serve as markers for genetic predispositions, clinically evident disorders and diverse drug responses. Present SNP diagnostics are primarily based on enzymatic reactions in different formats including sequencing, polymerase-chain reaction (PCR) and microarrays. In these assays, the enzymes are applied to address the required sensitivity and specificity when detecting SNP. On the other hand, the development of enzyme-free, simple and robust SNP sensing methods is in a constant focus in research and industry as such assays allow rapid and reproducible SNP diagnostics without the need for expensive equipment and reagents. An ideal method for detection of SNP would entail mixing a DNA or RNA target with a probe to directly obtain a signal. Current assays are still not fulfilling these requirements, although remarkable progress has been achieved in recent years. In this review, current SNP sensing approaches are described with a main focus on recently introduced direct, enzyme-free and ultrasensitive SNP sensing by optical methods.
Original languageEnglish
Issue number3
Pages (from-to)193-206
Number of pages14
Publication statusPublished - 2014
Externally publishedYes

Bibliographical note

This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).


  • SNP
  • Diagnostics
  • PCR
  • Enzyme-free assays
  • Fluorescence
  • Nanoparticles
  • Locked nucleic acids
  • Polyaromatic hydrocarbons


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