Digital PCR to assess gene-editing frequencies (GEF-dPCR) mediated by designer nucleases

Nat Protoc. 2016 Mar;11(3):598-615. doi: 10.1038/nprot.2016.027. Epub 2016 Feb 25.

Abstract

Genome editing using designer nucleases such as transcription activator-like effector nucleases (TALENs) or clustered regularly interspersed short palindromic repeats (CRISPR)-Cas9 nucleases is an emerging technology in basic and applied research. Whereas the application of editing tools, namely CRISPR-Cas9, has recently become very straightforward, quantification of resulting gene knockout rates still remains a bottleneck. This is particularly true if the product of a targeted gene is not easily detectable. To address this problem, we devised a novel gene-editing frequency digital PCR (GEF-dPCR) technique. GEF-dPCR exploits two differently labeled probes that are placed within one amplicon at the gene-editing target site to simultaneously detect wild-type and nonhomologous end-joining (NHEJ)-affected alleles. Taking advantage of the principle of dPCR, this enables concurrent quantification of edited and wild-type alleles in a given sample. We propose that our method is optimal for the monitoring of gene-edited cells in vivo, e.g., in clinical settings. Here we describe preparation, design of primers and probes, and setup and analysis of GEF-dPCR. The setup of GEF-dPCR requires up to 2 weeks (depending on the starting point); once the dPCR has been established, the protocol for sample analysis takes <1 d.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • CRISPR-Cas Systems*
  • Cell Line
  • DNA / genetics
  • DNA End-Joining Repair
  • DNA Probes / genetics
  • Endonucleases / genetics*
  • Endonucleases / metabolism
  • Genetic Engineering* / methods
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction / methods*

Substances

  • DNA Probes
  • DNA
  • Endonucleases