title: Scanning the mitochondrial genome for mutations by cycling temperature capillary electrophoresis.
abstract: To bypass possible nuclear contamination and to exclusively amplify DNA from the mitochondrion, a set of 23 primers was selected. On the mitochondrial DNA selection fragments, a second set of fragments was used to amplify and identify mutant fractions with a detection limit of 1% . This mutation scanning method analyzed 76% of the mitochondrial genome and was used to examine 94 tumours from different tissues of origin. In all, 87 tumours had one or more mutations, leaving seven samples without observed mutations. Sanger sequencing verified samples carrying mutations with a mutant fraction exceeding 30%. The generated data validate that several regions of the mitochondrial DNA have more mutations than others.
authors.affiliation: a Department of Tumor Biology , Institute for Cancer Research, The Norwegian Radium Hospital , Oslo , Norway.
authors.forename: Christian
authors.initials: C
authors.lastname: Arstad
authors.affiliation: b Chaire de Statistique Appliques , Section de Mathematiques, EPFL , Lausanne , Switzerland.
authors.forename: Paulo
authors.initials: P
authors.lastname: Refinetti
authors.affiliation: c Department Medical Biochemistry , Institute for Cancer Research, The Norwegian Radium Hospital , Oslo , Norway.
authors.forename: David
authors.initials: D
authors.lastname: Warren
authors.affiliation: a Department of Tumor Biology , Institute for Cancer Research, The Norwegian Radium Hospital , Oslo , Norway.
authors.forename: Karl-Erik
authors.initials: KE
authors.lastname: Giercksky
authors.affiliation: a Department of Tumor Biology , Institute for Cancer Research, The Norwegian Radium Hospital , Oslo , Norway.
authors.forename: Per Olaf
authors.initials: PO
authors.lastname: Ekstrøm
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm; D019075:Electrophoresis, Capillary; D005260:Female; D054629:Genome, Mitochondrial; D006801:Humans; D008297:Male; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm
keywords: DNA; cancer; cycling temperature capillary electrophoresis; mitochondrial genome; mutations