title: Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.
abstract: 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.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Parfait
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: A
authors.initials: A
authors.lastname: Rötig
mesh_terms: D002460:Cell Line; D002467:Cell Nucleus / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics; D005784:Gene Amplification; D018628:Gene Dosage; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011544:Pseudogenes
chemical_list: D004272:DNA, Mitochondrial