Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.

@article{Poulton1989TandemDD,
  title={Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.},
  author={Joanna Poulton and Mary E. Deadman and R. Mark Gardiner},
  journal={Nucleic acids research},
  year={1989},
  volume={17 24},
  pages={10223-9}
}
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… CONTINUE READING

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