Deletion screening of mitochondrial DNA via multiprimer DNA amplification

Mol Cell Probes. 1994 Feb;8(1):45-9. doi: 10.1006/mcpr.1994.1006.


We report an application of multiprimed polymerase chain reaction (PCR) which allows a rapid, nonradioactive detection of deletions in mitochondrial DNA using EDTA-blood and muscle samples. The use of two primer sets consisting of three forward and five reverse primers, respectively, allows a competitive PCR resulting in significant amplification products only in the presence of deletion-harbouring DNA species. Under the conditions described, deletions causing Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO) have been successfully detected. The location of the primers on mitochondrial DNA used in this study should allow identification and localization of most of the large-scale deletions (i.e. more than 1 kb) of mitochondrial DNA reported so far.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • DNA Primers*
  • DNA, Mitochondrial / genetics*
  • Gene Amplification*
  • Gene Deletion*
  • Genetic Testing
  • Humans
  • Kearns-Sayre Syndrome / diagnosis
  • Kearns-Sayre Syndrome / genetics
  • Molecular Sequence Data
  • Ophthalmoplegia, Chronic Progressive External / diagnosis
  • Ophthalmoplegia, Chronic Progressive External / genetics
  • Polymerase Chain Reaction


  • DNA Primers
  • DNA, Mitochondrial