A reanalysis of the indirect evidence for recombination in human mitochondrial DNA

Heredity (Edinb). 2004 Apr;92(4):282-8. doi: 10.1038/sj.hdy.6800413.


In an attempt to resolve the controversy about whether recombination occurs in human mtDNA, we have analysed three recently published data sets of complete mtDNA sequences along with 10 RFLP data sets. We have analysed the relationship between linkage disequilibrium (LD) and distance between sites under a variety of conditions using two measures of LD, r2 and /D'/. We find that there is a negative correlation between r2 and distance in the majority of data sets, but no overall trend for /D'/. Five out of six mtDNA sequence data sets show an excess of homoplasy, but this could be due to either recombination or hypervariable sites. Two additional recombination detection methods used, Geneconv and Maximum Chi-Square, showed nonsignificant results. The overall significance of these findings is hard to quantify because of nonindependence, but our results suggest a lack of evidence for recombination in human mtDNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Humans
  • Linkage Disequilibrium
  • Open Reading Frames / genetics
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Recombination, Genetic*


  • DNA, Mitochondrial