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RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7
Includes abstract.
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
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Division of Human Genetics
2014
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| _version_ | 1867613195590434816 |
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| access_status_str | Open Access |
| author | Scholefield, Janine |
| author2 | Greenberg, Jacquie |
| author_browse | Greenberg, Jacquie Scholefield, Janine |
| author_facet | Greenberg, Jacquie Scholefield, Janine |
| author_sort | Scholefield, Janine |
| collection | Thesis |
| description | Includes abstract. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/3104 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:32:17.361Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| 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:11427/3104 RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 Scholefield, Janine Greenberg, Jacquie Human Genetics Includes abstract. Includes bibliographical references (leaves 118-133). The polyglutamine disorders are a subgroup of inherited neurodegenerative disorders with a common mutation which confers toxicity via a polyglutamine tract in the protein leading ultimately to various forms of neurodegeneration. One of these disorders, spinocerebellar ataxia 7 (SCA7) exists at a higher frequency in South Africa, than elsewhere in the world, and a founder effect has been demonstrated in South Africa, such that every patient tested thus far is linked to a common ancestor. The manipulation of RNA interference (RNAi) has been used with increasing success to selectively knockdown the expression of disease-causing genes at the RNA level. Thus, the possibility of applying this method to SCA7 in South Africa was considered. However, the wild-type allele of ataxin-7 is likely to be necessary for cellular function therefore a form of allele-specific silencing is required, such as a SNP linked to the mutation. 2014-07-28T14:52:38Z 2014-07-28T14:52:38Z 2008 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/3104 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Human Genetics Scholefield, Janine RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 |
| thesis_degree_str | Doctoral |
| title | RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 |
| title_full | RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 |
| title_fullStr | RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 |
| title_full_unstemmed | RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 |
| title_short | RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 |
| title_sort | rnai based allele specific silencing of the disease causing gene in black south african patients with sca7 |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/3104 |
| work_keys_str_mv | AT scholefieldjanine rnaibasedallelespecificsilencingofthediseasecausinggeneinblacksouthafricanpatientswithsca7 |