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Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy
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...
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| Format: | Thesis |
| Language: | English |
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Division of Human Genetics
2017
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| _version_ | 1867613176827215872 |
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| access_status_str | Open Access |
| author | Tyers, Lynn |
| author2 | Esterhuizen, Alina |
| author_browse | Esterhuizen, Alina Tyers, Lynn |
| author_facet | Esterhuizen, Alina Tyers, Lynn |
| author_sort | Tyers, Lynn |
| collection | Thesis |
| description | 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. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/22731 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:31:58.458Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2017 |
| publishDateRange | 2017 |
| publishDateSort | 2017 |
| publisher | Division of Human Genetics |
| publisherStr | Division of Human Genetics |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/22731 Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy Tyers, Lynn Esterhuizen, Alina Davids, Lester M Human Genetics 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. 2017-01-16T13:44:58Z 2017-01-16T13:44:58Z 2016 Master Thesis Masters MSc (Med) http://hdl.handle.net/11427/22731 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Human Genetics Tyers, Lynn Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy |
| thesis_degree_str | Master's |
| title | Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy |
| title_full | Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy |
| title_fullStr | Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy |
| title_full_unstemmed | Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy |
| title_short | Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy |
| title_sort | skin cells as a tool in genetic diagnosis of duchenne muscular dystrophy |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/22731 |
| work_keys_str_mv | AT tyerslynn skincellsasatoolingeneticdiagnosisofduchennemusculardystrophy |