title: Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy.
abstract: Muscle mitochondrial DNAs from two brothers with mitochondrial myopathy associated with peripheral neuropathy had multiple deletions, most of which started in non-D-loop regions, unlike in an autosomal dominant mitochondrial myopathy (Zeviani, M. et al., Nature 339, 309 (1989)). The non-D-loop regions with deletions were amplified by the polymerase chain reaction and the resulting fragments were subcloned and then sequenced. At least 12 deletions of different lengths in different sites were found. However, all the deletions were flanked by short direct repeats (4-12 base pairs).
authors.affiliation: Department of Biochemistry, Jichi Medical School, Tochigi-ken, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yuzaki
authors.forename: N
authors.initials: N
authors.lastname: Ohkoshi
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kagawa
authors.forename: S
authors.initials: S
authors.lastname: Ohta
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics*; D006367:HeLa Cells / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000378:metabolism*; D008969:Molecular Sequence Data; D009468:Neuromuscular Diseases / Q000235:genetics*; D015345:Oligonucleotide Probes / Q000138:chemical synthesis; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping
chemical_list: D004272:DNA, Mitochondrial; D015345:Oligonucleotide Probes