Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method

Biochem Biophys Res Commun. 1989 Jul 31;162(2):664-72. doi: 10.1016/0006-291x(89)92362-0.


A gene amplification method for detecting small populations of deleted mitochondrial DNA was used in analysis of skeletal muscle from a patient with ocular myopathy. Multiple populations of differently deleted mtDNA were detected in the patient muscle. The presence of deleted mtDNAs was further confirmed by comparison of the shift in the sizes of the amplified fragments with the shift in the positions of the primers used for the amplification, (the primer shift PCR method). Other methods, namely Southern blotting, enzymic activity measurement, and Western blotting, were inefficient at detecting the mitochondrial abnormality. These findings suggest that the primer shift PCR method could be valuable for accurate diagnosis of ocular myopathy associated with mtDNA deletion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Chromosome Deletion*
  • DNA, Mitochondrial / analysis*
  • DNA, Mitochondrial / genetics
  • DNA-Directed DNA Polymerase
  • Female
  • Gene Amplification*
  • Humans
  • Middle Aged
  • Muscles / analysis*
  • Nucleic Acid Hybridization
  • Ophthalmoplegia / genetics*


  • DNA, Mitochondrial
  • DNA-Directed DNA Polymerase