Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes
Master Thesis
2008
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University of Cape Town
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Abstract
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.
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Includes bibliographical references (leaves 92-112).
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Lupindo, B. 2008. Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes. University of Cape Town.