Polymorphic variants in the human mitochondrial cytochrome b gene

Antonio L. Andreu, Claudio Bruno, Georgiou M. Hadjigeorgiou, Sara Shanske, Salvatore Dimauro

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)49-52
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number1
Publication statusPublished - May 1999


  • Cytochrome b
  • Mitochondrial DNA
  • Polymorphism

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism


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