RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7

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dc.contributor.advisorGreenberg, Jacquieen_ZA
dc.contributor.authorScholefield, Janineen_ZA
dc.date.accessioned2014-07-28T14:52:38Z
dc.date.available2014-07-28T14:52:38Z
dc.date.issued2008en_ZA
dc.descriptionIncludes abstract.
dc.descriptionIncludes bibliographical references (leaves 118-133).
dc.description.abstractThe 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.en_ZA
dc.identifier.apacitationScholefield, J. (2008). <i>RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/3104en_ZA
dc.identifier.chicagocitationScholefield, Janine. <i>"RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2008. http://hdl.handle.net/11427/3104en_ZA
dc.identifier.citationScholefield, J. 2008. RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Scholefield, Janine AB - 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. DA - 2008 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2008 T1 - RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 TI - RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7 UR - http://hdl.handle.net/11427/3104 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/3104
dc.identifier.vancouvercitationScholefield J. RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2008 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/3104en_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.titleRNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7en_ZA
dc.typeDoctoral Thesis
dc.type.qualificationlevelDoctoral
dc.type.qualificationnamePhDen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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