Polymorphic variants in the human mitochondrial cytochrome b gene

We report the polymorphic variants of the human cytochrome b gene based on sequence analysis in 32 Caucasian individuals. We found 27 variants (12 syn onymous changes and 15 amino acid replacements). Of these, 15 (8 silent cha nges and 7 amino acid replacements) have not been previously reported. Base d on restriction length polymorphism analysis of patients and their materna l relatives, we conclude that these new amino acid replacements represent m aternally inherited polymorphisms. Comparative analysis of the data suggest s that four different genotypes can be defined for the human cytochrome b g ene. (C) 1999 Academic Press.