priorMtGenetics-notes

priorMtGenetics-notes - ) Midlife acute onset of blindness...

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1 Mitochondrial Genetics Thomas W. Prior, Ph.D. Director of Molecular Pathology Department of Pathology Mitochondrial DNA has a high rate of mutation Genotype Phenotype Association ? The goal of genetic testing is to identify sequence variation Mutations Polymorphisms Pathogenic Mutations Type of Mutation Location of mutation Allelic and Genetic Heterogeneity Genotype / Phenotype Association Three types of Mutations in the mtDNA Point mutations in tRNA and rRNA Missense mutations in coding region Rearrangements
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2 Lebers Hereditary Optic Neuropathy (LHON
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Unformatted text preview: ) Midlife acute onset of blindness Affects males more than females Missense mutations in complex I Homoplasmic Mutations Pitfalls of Genetic testing for Mitochondrial Disorders Genotype / Phenotype Association Differences in Tissue Distribution Rare Mutations and Nuclear DNA Mutations Polymorphic Variation Criteria of Pathogenicity of a MtDNA Sequence Change Segregation of mutation with phenotype Heteroplasmy Functional impairment Phylogenetic conservation Haplotype divergency of identical mutations...
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priorMtGenetics-notes - ) Midlife acute onset of blindness...

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