Simultaneous quantification of mitochondrial DNA copy number and deletion ratio: a multiplex real-time PCR assay

Sci Rep. 2014 Jan 27;4:3887. doi: 10.1038/srep03887.


Mitochondrial dysfunction is implicated in a vast array of diseases and conditions, such as Alzheimer's disease, cancer, and aging. Alterations in mitochondrial DNA (mtDNA) may provide insight into the processes that either initiate or propagate this dysfunction. Here, we describe a unique multiplex assay which simultaneously provides assessments of mtDNA copy number and the proportion of genomes with common large deletions by targeting two mitochondrial sites and one nuclear locus. This probe-based, single-tube multiplex provides high specificity while eliminating well-to-well variability that results from assaying nuclear and mitochondrial targets individually.

Publication types

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

MeSH terms

  • Base Sequence
  • DNA Copy Number Variations*
  • DNA Primers
  • DNA, Mitochondrial / genetics*
  • Multiplex Polymerase Chain Reaction / methods*
  • Real-Time Polymerase Chain Reaction / methods*
  • Reproducibility of Results


  • DNA Primers
  • DNA, Mitochondrial