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Articles 1 - 4 of 4
Full-Text Articles in Genetic Phenomena
Metabolomic Investigation Of A New Rat Model Of Autosomal Recessive Polycystic Kidney Disease, Hayley White
Metabolomic Investigation Of A New Rat Model Of Autosomal Recessive Polycystic Kidney Disease, Hayley White
Theses : Honours
Metabolomics is complementary to genomics, transcriptomics and proteomics; however, it has the capacity to reflect the activities of the organism at a functional level. Metabolomics can therefore be used as a diagnostic tool by identifying the up- or down-regulation of metabolites in the cell, tissue, plasma, serum or urine. Specifically, these are, but are not limited to, identifying biomarkers of disease, monitoring drug treatments, and monitoring surgical procedures such as organ transplant. Autosomal recessive polycystic kidney disease (ARPKD) makes up 5-8% of patients requiring kidney dialysis and/or transplantation and of these, an estimated 50% of patients progress to end-stage renal …
Molecular Investigations In The Role Of The Galk1 Gene In Galactokinase Deficiency, Michael L. Hunter
Molecular Investigations In The Role Of The Galk1 Gene In Galactokinase Deficiency, Michael L. Hunter
Theses : Honours
Galactokinase deficiency is an autosomal-recessive inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. This metabolic disorder is caused by defects in the first enzyme of the Leloir pathway, galactokinase, encoded by the gene GALK1 on chromosome 17q24. Despite the identification of a number of conserved domains in GALK1, understanding of the functional significance of these regions and the molecular basis of the disorder is limited. This is largely due to the rarity of the disease and the fact that the small number of GALK1 mutations identified to-date are …
Molecular Studies Of Splice Sites In The Canine Dystrophin Gene, Hayley Durling
Molecular Studies Of Splice Sites In The Canine Dystrophin Gene, Hayley Durling
Theses : Honours
The development of an effective therapy for Duchenne Muscular Dystrophy (DMD) is one of the primary goals of all DMD/Becker Muscular Dystrophy (BMD) research. Golden Retriever Muscular Dystrophy (GRMD), an animal model of DMD is a fatal degenerative myopathy. Unlike the mdx model, the GRMD dog more accurately reflects the phenotype shown by human DMG patients, making the model better suited for the investigation and assessment of potential therapeutic approaches. The GRMD mutation, a base change from A to G in the 3' splice acceptor site of intron 6, results in exon 7 skipping which disrupts the translational reading frame. …
Detection Of Point Mutations In The Dystrophin Gene, John Pedretti
Detection Of Point Mutations In The Dystrophin Gene, John Pedretti
Theses : Honours
The dystrophin gene has been localised to Xp 21.1. Mutations of this gene can lead to the clinical manifestations of Duchenne and Becker muscular dystrophies (DMD/BMD). In the majority of DMD and BMD patients the disease-causing mutation is a deletion detectable by southern analysis or multiplex PCR, however in 30% of patients no deletion is observed using these conventional tests. Using PCR amplification of cDNA it was possible to detect a deletion in the product of the dystrophin gene of one such individual affected with BMD. It was then necessary to characterise the mutation in order to determine whether this …