A dissertation submitted to the Faculty of Science, University of the Witwatersrand, Johannesburg, in fulfilment of requirements for the degree of Master of Science. Johannesburg, 2016. / The Organic Cation Transporter 2 (OCT2) gene is responsible for facilitating the transport of
cationic compounds, which include both endogenous substrates and clinical drugs. Single
nucleotide polymorphisms (SNPs) within this gene were extensively explored in the South
African black population as little research has been conducted on these individuals so far. We
sequenced the OCT2 promoter region of 10 DNA samples from the South African black
population and identified four SNPs and one INDEL. We performed a luciferase assay to
determine their effects on gene expression and we found two variants (rs59695691 and
rs138765638) that showed a statistically significant change in luciferase expression
suggesting that they may be associated with a change in OCT2 regulatory function. We also
indentified thirteen SNPs and two INDELs within the OCT2 promoter region, and nine SNPs
within the OCT2 coding region through analysing various South African population studies.
These variations could affect both gene expression and protein function. These findings help
contribute to filling the gap pertaining to OCT variation in South African populations. / LG2017
| Identifer | oai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:wits/oai:wiredspace.wits.ac.za:10539/21741 |
| Date | January 2016 |
| Creators | Wilson, Nina Claire |
| Source Sets | South African National ETD Portal |
| Language | English |
| Detected Language | English |
| Type | Thesis |
| Format | Online resource (xii, 72 leaves), application/pdf, application/pdf |
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