Polymorphic variants in the human mitochondrial cytochrome b gene

Mol Genet Metab. 1999 May;67(1):49-52. doi: 10.1006/mgme.1999.2843.


We report the polymorphic variants of the human cytochrome b gene based on sequence analysis in 32 Caucasian individuals. We found 27 variants (12 synonymous changes and 15 amino acid replacements). Of these, 15 (8 silent changes and 7 amino acid replacements) have not been previously reported. Based on restriction length polymorphism analysis of patients and their maternal relatives, we conclude that these new amino acid replacements represent maternally inherited polymorphisms. Comparative analysis of the data suggests that four different genotypes can be defined for the human cytochrome b gene.

Publication types

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

MeSH terms

  • Cytochrome b Group / genetics*
  • DNA Mutational Analysis
  • DNA, Mitochondrial*
  • Genotype
  • Humans
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length


  • Cytochrome b Group
  • DNA, Mitochondrial