Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations

Biochem Biophys Res Commun. 1998 Jun 9;247(1):57-9. doi: 10.1006/bbrc.1998.8666.


The potential co-amplification of actual mtDNA and nucleus-embedded mtDNA sequences was studied for the mtDNA domains encompassing the major disease-causing mtDNA mutations. By using two different cell lines devoid of mtDNA (rho degree cell lines), it is shown that nucleus-embedded mtDNA sequences readily co-amplified with most of the mtDNA domains encompassing disease-causing mtDNA mutations. The selection of mtDNA primers for specificity on rho degree cells constitutes a simple procedure to avoid such co-amplification. It appears mandatory prior to quantify mtDNA mutations, especially when delivering prenatal diagnosis or predictive genetic advise.

MeSH terms

  • Cell Line
  • Cell Nucleus / genetics*
  • DNA, Mitochondrial / genetics*
  • Deafness / genetics
  • Diabetes Mellitus / genetics
  • Gene Amplification*
  • Gene Dosage
  • Humans
  • Mitochondrial Encephalomyopathies / genetics
  • Point Mutation*
  • Polymerase Chain Reaction
  • Pseudogenes*


  • DNA, Mitochondrial