title: Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.
abstract: Two patients with direct tandem duplications of mitochondrial DNA (mtDNA) and mitochondrial myopathy are described. The breakpoint regions between duplicated segments were amplified using the polymerase chain reaction (PCR), cloned and sequenced. The distribution of normal and abnormal genomes in different tissues was investigated using Southern hybridisation, and in different cells within the same tissue using PCR. In each case the gene for cytochrome oxidase subunit I (MTCOX1) was interrupted, creating reading frames which if transcribed and translated would result in truncated versions of this peptide. Heteroplasmy and mosaicism for the abnormal mtDNA population was apparent.
authors.affiliation: University of Oxford Department of Paediatrics, John Radcliffe Hospital, Headington, UK.
authors.forename: J
authors.initials: J
authors.lastname: Poulton
authors.forename: M E
authors.initials: ME
authors.lastname: Deadman
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D009886:Ophthalmoplegia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D014018:Tissue Distribution
chemical_list: D004272:DNA, Mitochondrial