Ultraspecific and Amplification-Free Quantification of Mutant DNA by Single-Molecule Kinetic Fingerprinting

J Am Chem Soc. 2018 Sep 19;140(37):11755-11762. doi: 10.1021/jacs.8b06685. Epub 2018 Sep 5.

Abstract

Conventional techniques for detecting rare DNA sequences require many cycles of PCR amplification for high sensitivity and specificity, potentially introducing significant biases and errors. While amplification-free methods exist, they rarely achieve the ability to detect single molecules, and their ability to discriminate between single-nucleotide variants is often dictated by the specificity limits of hybridization thermodynamics. Here we show that a direct detection approach using single-molecule kinetic fingerprinting can surpass the thermodynamic discrimination limit by 3 orders of magnitude, with a dynamic range of up to 5 orders of magnitude with optional super-resolution analysis. This approach detects mutations as subtle as the drug-resistance-conferring cancer mutation EGFR T790M (a single C → T substitution) with an estimated specificity of 99.99999%, surpassing even the leading PCR-based methods and enabling detection of 1 mutant molecule in a background of at least 1 million wild-type molecules. This level of specificity revealed rare, heat-induced cytosine deamination events that introduce false positives in PCR-based detection, but which can be overcome in our approach through milder thermal denaturation and enzymatic removal of damaged nucleobases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • DNA / analysis*
  • DNA / genetics*
  • Drug Resistance, Neoplasm / genetics
  • ErbB Receptors / genetics
  • Fluorescent Dyes / chemistry
  • Humans
  • Kinetics
  • Microscopy, Fluorescence
  • Mutation
  • Polymerase Chain Reaction

Substances

  • Fluorescent Dyes
  • DNA
  • EGFR protein, human
  • ErbB Receptors