Mitochondrial genotype

A human egg harbors several hundred thousand molecules of mitochondrial DNA, whereas a sperm contributes only a few hundred and thus has little effect on the mitochondrial genotype. Because the maternally inherited mitochondria are present in large numbers and not all of the mitochondria may be affected, the pathologies of mitochondrial mutants can be quite complex. Even within a single family carrying an identical mutation, chance fluctuations in the percentage of mitochondria with the mutation lead to large... 

Tanaka, M.f Gong, J. S., Zhang, J., Yoneda, M. and Yagi, K. Mitochondrial genotype associated with longevity. Lancet 351 185-186 1998. 

Gasser, R.B., Zhu, X.Q. and Woods, W.G. (1999) Genotyping Taenia tapeworms by single-strand conformation polymorphism of mitochondrial DNA. Electrophoresis 20, 2834—2837. 

Zhang, L.H., Chai, J.J., Jiao, W., Osman, Y. and McManus, D.P. (1998) Mitochondrial genomic markers confirm the presence of the camel strain (G6 genotype) of Echinococcus granulosus in north-western China. Parasitology 116, 29-33. 

Gregersen N, Andresen BS, Corydon MJ, Gorydon TJ, Olsen RK, Bolund L, Bross P. Mutation analysis in mitochondrial fatty add oxidation defects Exemplified by acyl-CoA dehydrogenase defidendes, with spedal focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep 18(3) 169-89. Review. PubMed dtation... 

M8. Masucci, J. P., Davidson, M., Koga, Y., Schon, E. A., and King, M. P., In vitro analysis of mutants causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALys gene Two genotypes produce similar phenotypes. Mol. Cell. Biol. 15, 2872-2881 (1995). 

SI 1. Shoubridge, E. A., Johns, T., and Karpati, G., Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial... 

O Dowd BF, Rothhammer F, Israel Y. Genotyping of mitochondrial aldehyde dehydrogenase locus of native American Indians. Alcohol Clin Exp Res 1990 14 531-533. 

Hashimoto, T., Fujita, T., Usuda, N., Cook, W., Qi, C., Peters, J. M., Gonzalez, F. J., Yeldandi, A. V., Rao, M. S., and Reddy, J. K. (1999). Peroxisomal and mitochondrial fatty acid beta-oxidation in mice nullizygous for both peroxisome proUferator-activated receptor alpha and peroxisomal fatty acyl-CoA oxidase. Genotype correlation with fatty liver phenotype. J Biol Chem 274, 19228-19236. 

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