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|Position - Company|
Staff Scientist - Central Analytical Facilities - DNA Sequencing Unit
The aim of the Central Analytical Facility (CAF) is to ensure optimal utilisation of expensive multi-user research equipment in the service of the research community of Stellenbosch University, and the South African research and development sector in general.
To this end, CAF consists of operational units built around logical clusters of equipment and managed by a Staff Scientist, who provides advice to potential users on relevant analytical and sample preparation techniques, perform analyses for clients, train users to perform their own analyses and ensure good maintenance, calibration and performance of the equipment.
The DNA sequencing unit consists of several capillary sequencers as well as a Next generation sequencers (SOLiD4, an Ion Torrent and from Oct 2011, a 5500xl.) The facility also offers DNA extraction, PCR, Real time PCR and cloning services.
|Mar 1997 - Present|
|Degree - University|
|Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. Br J Dermatol. 166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x. February 2012. View on PubMed.|
|Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. Exp Dermatol. 14(1):50-5. doi: 10.1111/j.0906-6705.2005.00228.x. January 2005. View on PubMed.|
|Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet. 5(7):981-4. July 1996. View on PubMed.|
|Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32. Hum Genet. 97(5):690-2. May 1996. View on PubMed.|