Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype

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dc.contributor.advisorRamesar, Rajen_ZA
dc.contributor.authorAkinyi, Maureen Veronicaen_ZA
dc.date.accessioned2014-12-25T15:54:11Z
dc.date.available2014-12-25T15:54:11Z
dc.date.issued2011en_ZA
dc.description.abstractRetinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision. Clinical, phenotypic and genetic heterogeneity are frequently observed in RP. Mutations in Rhodopsin (RHO) have been identified as a major cause of RP. A sequence variant identified in the 5' untranslated region of RHO, g.269A>G, also known as c.-26A>G, was proposed to increase the risk of developing RP. In this study, the functional effect of this variant, individually and in cis with known pathogenic variants, was investigated using mammalian cell lines in order to determine whether the variant is a modifier of disease phenotype.en_ZA
dc.identifier.apacitationAkinyi, M. V. (2011). <i>Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/10007en_ZA
dc.identifier.chicagocitationAkinyi, Maureen Veronica. <i>"Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2011. http://hdl.handle.net/11427/10007en_ZA
dc.identifier.citationAkinyi, M. 2011. Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Akinyi, Maureen Veronica AB - Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision. Clinical, phenotypic and genetic heterogeneity are frequently observed in RP. Mutations in Rhodopsin (RHO) have been identified as a major cause of RP. A sequence variant identified in the 5' untranslated region of RHO, g.269A>G, also known as c.-26A>G, was proposed to increase the risk of developing RP. In this study, the functional effect of this variant, individually and in cis with known pathogenic variants, was investigated using mammalian cell lines in order to determine whether the variant is a modifier of disease phenotype. DA - 2011 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2011 T1 - Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype TI - Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype UR - http://hdl.handle.net/11427/10007 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/10007
dc.identifier.vancouvercitationAkinyi MV. Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2011 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/10007en_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.titleFunctional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotypeen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMScen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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