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

Includes bibliographical references (leaves 92-112). / 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.

Identiferoai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:uct/oai:localhost:11427/4289
Date January 2008
CreatorsLupindo, Bukiwe
ContributorsSeoighe, Cathal
PublisherUniversity of Cape Town, Faculty of Science, Department of Molecular and Cell Biology
Source SetsSouth African National ETD Portal
LanguageEnglish
Detected LanguageEnglish
TypeMaster Thesis, Masters, MSc
Formatapplication/pdf

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