Detection of DNA fragments encompassing the deletion junction of mitochondrial genome

Biochem Biophys Res Commun. 1996 May 15;222(2):215-9. doi: 10.1006/bbrc.1996.0724.

Abstract

Deletions and occasional duplications in mitochondrial DNA have been known to be present in mitochondrial diseases and in aged tissues. The junctional sequences of the rearrangements must be determined for detecting duplication, but its procedures seem laborious for routine examination. The joint method of long polymerase chain reaction plus digestion by three restriction enzymes provides a simple method to detect and map the deletion sites of mitochondrial DNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cytochrome-c Oxidase Deficiency
  • DNA Primers
  • DNA, Mitochondrial / chemistry*
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / isolation & purification
  • Gene Rearrangement
  • Humans
  • Molecular Sequence Data
  • Muscle Fibers, Fast-Twitch / pathology
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Ophthalmoplegia / genetics*
  • Ophthalmoplegia / pathology
  • Polymerase Chain Reaction
  • Restriction Mapping
  • Sequence Deletion*

Substances

  • DNA Primers
  • DNA, Mitochondrial