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More evidence for non-maternal inheritance of mitochondrial DNA?
  1. H-J Bandelt1,
  2. Q-P Kong2,
  3. W Parson3,
  4. A Salas4
  1. 1Fachbereich Mathematik, Universität Hamburg, Hamburg, Germany
  2. 2Key Laboratory of Cellular and Molecular Evolution and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China
  3. 3Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
  4. 4Unidad de Genética, Instituto de Medicina Legal, Facultad de Medicina, Santiago de Compostela, Galicia, Spain
  1. Correspondence to:
 Dr Hans-Jürgen Bandelt
 Fachbereich Mathematik, Universität Hamburg, Bundesstr 55, 20146 Hamburg, Germany; bandelt{at}


Background: A single case of paternal co-transmission of mitochondrial DNA (mtDNA) in humans has been reported so far.

Objective: To find potential instances of non-maternal inheritance of mtDNA.

Methods: Published medical case studies (of single patients) were searched for irregular mtDNA patterns by comparing the given haplotype information for different clones or tissues with the worldwide mtDNA database as known to date—a method that has proved robust and reliable for the detection of flawed mtDNA sequence data.

Results: More than 20 studies were found reporting clear cut instances with mtDNAs of different ancestries in single individuals. As examples, cases are reviewed from recent published reports which, at face value, may be taken as evidence for paternal inheritance of mtDNA or recombination.

Conclusions: Multiple types (or recombinant types) of quite dissimilar mitochondrial DNA from different parts of the known mtDNA phylogeny are often reported in single individuals. From re-analyses and corrigenda of forensic mtDNA data, it is apparent that the phenomenon of mixed or mosaic mtDNA can be ascribed solely to contamination and sample mix up.

  • HVS-I, first hypervariable segment
  • HVS-II, second hypervariable segment
  • mtDNA, mitochondrial DNA
  • rCRS, revised Cambridge reference sequence
  • mitochondrial DNA
  • recombination
  • somatic mutation
  • sequencing error

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  • Published Online First 27 May 2005

  • Competing interests: none declared