Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy

dc.contributor.advisorEsterhuizen, Alinaen_ZA
dc.contributor.advisorDavids, Lester Men_ZA
dc.contributor.authorTyers, Lynnen_ZA
dc.date.accessioned2017-01-16T13:44:58Z
dc.date.available2017-01-16T13:44:58Z
dc.date.issued2016en_ZA
dc.description.abstractDuchenne muscular dystrophy (DMD) is the most common and severe of the dystrophies, with an incidence of 1 in 3500 live male births, worldwide. Becker Muscular dystrophy (BMD) has a lower incidence of approximately 1 in 17500 births, a milder progression and longer life expectancy. Many advancements have been made in the development of gene-based therapies for the treatment of D/BMD, however, these treatments require genetic confirmation of the disease which continues to present a significant diagnostic challenge. The current standard for RNA-based analysis requires obtaining an invasive, often distressing, muscle biopsy. This dissertation investigated the utility of human autologous epidermal melanocyte and dermal fibroblast cell cultures for use as a tool for genetic confirmation of D/BMD from a much less invasive shave skin biopsy. Methodologies included immunohistochemical, immunocytochemical, Western blot, qPCR analysis and cDNA sequencing. The results suggest that melanocytes and fibroblasts express the full length muscle isoform of dystrophin, although at differing levels, and that melanocytes could potentially be used as an alternative for the genetic confirmation of D/BMD.en_ZA
dc.identifier.apacitationTyers, L. (2016). <i>Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/22731en_ZA
dc.identifier.chicagocitationTyers, Lynn. <i>"Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2016. http://hdl.handle.net/11427/22731en_ZA
dc.identifier.citationTyers, L. 2016. Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Tyers, Lynn AB - Duchenne muscular dystrophy (DMD) is the most common and severe of the dystrophies, with an incidence of 1 in 3500 live male births, worldwide. Becker Muscular dystrophy (BMD) has a lower incidence of approximately 1 in 17500 births, a milder progression and longer life expectancy. Many advancements have been made in the development of gene-based therapies for the treatment of D/BMD, however, these treatments require genetic confirmation of the disease which continues to present a significant diagnostic challenge. The current standard for RNA-based analysis requires obtaining an invasive, often distressing, muscle biopsy. This dissertation investigated the utility of human autologous epidermal melanocyte and dermal fibroblast cell cultures for use as a tool for genetic confirmation of D/BMD from a much less invasive shave skin biopsy. Methodologies included immunohistochemical, immunocytochemical, Western blot, qPCR analysis and cDNA sequencing. The results suggest that melanocytes and fibroblasts express the full length muscle isoform of dystrophin, although at differing levels, and that melanocytes could potentially be used as an alternative for the genetic confirmation of D/BMD. DA - 2016 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2016 T1 - Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy TI - Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy UR - http://hdl.handle.net/11427/22731 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/22731
dc.identifier.vancouvercitationTyers L. Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2016 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/22731en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherHuman Geneticsen_ZA
dc.titleSkin cells as a tool in genetic diagnosis of Duchenne muscular dystrophyen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMSc (Med)en_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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