Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance

J Bioenerg Biomembr. 1994 Jun;26(3):261-71. doi: 10.1007/BF00763098.


Haplotype and phylogenetic analyses of "normal" mitochondrial DNAs (mtDNAs) have allowed a clarification of several controversial issues concerning the origin of humans, the time and colonization pattern of the various regions of the world, and the genetic relationships of modern human populations. More recently, the same type of analyses has also been applied to mtDNA disease studies. A review of these studies indicates that exhaustive screenings of "normal" mtDNA variation in all human populations associated with haplotype and phylogenetic analyses are essential if we are to understand the etiology of mitochondrial pathologies.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Africa
  • Americas
  • Asia
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics*
  • Europe
  • Female
  • Genetic Variation*
  • Humans
  • Male
  • Metabolic Diseases / etiology
  • Mitochondrial Myopathies / etiology
  • Mutation
  • Phylogeny


  • DNA, Mitochondrial