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Molecular Genetic Investigation Of Autosomal Dominant Muscular Dystrophy, Christopher Meredith
Molecular Genetic Investigation Of Autosomal Dominant Muscular Dystrophy, Christopher Meredith
Theses: Doctorates and Masters
This thesis contributes to the Human Genome Project by adding detail to the physical and genetic maps of the human genome, and by identifying a strong candidate gene for a form of distal myopathy. Genomic clones for the human skeletal muscle genes slow troponin (TNN/1), alpha actin (ACTA1), and (3-tropomyosin (TPM2) were isolated for use in the fluorescent in situ hybridisation localisation of these genes on the cytogenetic map of the human genome. The localisation of these genes made them potential candidates for inherited skeletal muscle diseases, including the muscular dystrophies investigated here. Microsatellite, VNTR and RFLP markers were used …