Dec 1, 1993

Pedigree models for complex human traits involving the mitochondrial genome

American Journal of Human Genetics
N J Schork, S W Guo

Abstract

Recent biochemical and molecular-genetic discoveries concerning variations in human mtDNA have suggested a role for mtDNA mutations in a number of human traits and disorders. Although the importance of these discoveries cannot be emphasized enough, the complex natures of mitochondrial biogenesis, mutant mtDNA phenotype expression, and the maternal inheritance pattern exhibited by mtDNA transmission make it difficult to develop models that can be used routinely in pedigree analyses to quantify and test hypotheses about the role of mtDNA in the expression of a trait. In the present paper, we describe complexities inherent in mitochondrial biogenesis and genetic transmission and show how these complexities can be incorporated into appropriate mathematical models. We offer a variety of likelihood-based models which account for the complexities discussed. The derivation of our models is meant to stimulate the construction of statistical tests for putative mtDNA contribution to a trait. Results of simulation studies which make use of the proposed models are described. The results of the simulation studies suggest that, although pedigree models of mtDNA effects can be reliable, success in mapping chromosomal determinants of a trait do...Continue Reading

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Mentioned in this Paper

In Silico
DNA, Mitochondrial
Likelihood Functions
Dicom Derivation
Statistical Test
Genetic Pedigree
Elliptocytosis, Hereditary
Chromosomes
Inheritance Patterns
Mutant

About this Paper

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