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Author Mountford, Hayley S., author.

Title Using massively parallel sequencing to understand the genetic basis of mitochondrial disorders : a population-based approach / Hayley S. Mountford.

Published [Parkville, Victoria] : University of Melbourne, 2016.


Location Call No. Status
 UniM Bund SpC/T  MOUNTFO  2015    NOT FOR LOAN
Physical description xv, 282 pages, bound : illustrations ; 30 cm
Notes Typescript.
Contents Includes published paper: Mutations in the UQCC1 - Interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome ‚ô≠protein expression, by Elena J. Tucker, Hayley S. Mountford ... [and 16 others] (PLOS Genetics, December 2013, volume 9, issue 12, pp. 1-15).
Bibliography Includes bibliography: pages 220-242.
Thesis notes Thesis (Ph.D.)-- University of Melbourne, School of Chemistry, 2016.
Summary Inherited defects in mitochondrial oxidative phosphorylation (OXPHOS) are the most common inborn error of metabolism, affecting at least 1 in 5000 live births. They predominantly affect organs with high-energy consumption such as the brain, skeletal muscle, cardiac muscle and liver. Despite the large number of disease genes being identified, many patients with OXPHOS disease remain without a molecular diagnosis. The author and others developed a targeted DNA captureknown as MitoExome and massively parallel sequencing method to detect variants. This thesis focuses on two novel genes identified by MitoExome sequencing: UQCC2 and UQCR10, and describes some preliminary molecular investigation of 19 patients, who are as yet without a molecular diagnosis.
Subject Mitochondrial DNA -- Abnormalities.
Human genetics -- Data processing.
Medical genetics.
Genomics -- Data processing.
Gene targeting.
mitochondrial deficiency, mitochondrial disease, genetics, human genetics, complex III, next generation sequencing, massively parallel sequencing, disease genetics, candidate gene sequencing, birth prevalence estimate, OXPHOS, oxidative phosphorylation, MitoExome, targeted sequencing.