Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes

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dc.contributor.advisorSeoighe, Cathalen_ZA
dc.contributor.authorLupindo, Bukiween_ZA
dc.date.accessioned2014-07-30T17:38:54Z
dc.date.available2014-07-30T17:38:54Z
dc.date.issued2008en_ZA
dc.descriptionIncludes bibliographical references (leaves 92-112).
dc.description.abstractIn humans and other higher eukaryotes the observation of multiple splice isoforms for a given gene is common. However it is not clear whether all of these alternatively spliced isoforms are a product of true alternative splicing or some are due to DNA sequence variations in human populations. Genetic variations that affect splicing have been shown to cause variation in splicing patterns and potentially are an important source of phenotypic variability among humans. Furthermore, variation in disease susceptibility and manifestation between individuals is often associated with genetic polymorphisms that determine the way in which genes are spliced. Hence, identification of genetic polymorphisms that might affect the way in which pre-mRNAs are spliced is an area of great interest.en_ZA
dc.identifier.apacitationLupindo, B. (2008). <i>Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes</i>. (Thesis). University of Cape Town ,Faculty of Science ,Department of Molecular and Cell Biology. Retrieved from http://hdl.handle.net/11427/4289en_ZA
dc.identifier.chicagocitationLupindo, Bukiwe. <i>"Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes."</i> Thesis., University of Cape Town ,Faculty of Science ,Department of Molecular and Cell Biology, 2008. http://hdl.handle.net/11427/4289en_ZA
dc.identifier.citationLupindo, B. 2008. Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Lupindo, Bukiwe AB - In humans and other higher eukaryotes the observation of multiple splice isoforms for a given gene is common. However it is not clear whether all of these alternatively spliced isoforms are a product of true alternative splicing or some are due to DNA sequence variations in human populations. Genetic variations that affect splicing have been shown to cause variation in splicing patterns and potentially are an important source of phenotypic variability among humans. Furthermore, variation in disease susceptibility and manifestation between individuals is often associated with genetic polymorphisms that determine the way in which genes are spliced. Hence, identification of genetic polymorphisms that might affect the way in which pre-mRNAs are spliced is an area of great interest. DA - 2008 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2008 T1 - Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes TI - Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes UR - http://hdl.handle.net/11427/4289 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/4289
dc.identifier.vancouvercitationLupindo B. Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes. [Thesis]. University of Cape Town ,Faculty of Science ,Department of Molecular and Cell Biology, 2008 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/4289en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDepartment of Molecular and Cell Biologyen_ZA
dc.publisher.facultyFaculty of Scienceen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherBioinformaticsen_ZA
dc.titlePrevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genesen_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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