Molecular analysis of genes involved in iron overload implicated in oesophageal cancer

Human, Veronique (2007-03)

Thesis (MSc (Genetics))--University of Stellenbosch, 2007.


Oesophageal cancer is a disease characterised by a disproportionate presentation in certain ethnic groups, with squamous cell carcinoma (SCC) occuring more often in Blacks and adenocarcinoma (ADC) being more prevalent in Caucasians. Several factors have been attributed to the development of OC, including an excess of iron (leading to enhanced tumour growth), oesophageal injury and chronic inflammation. The main aim of this study was to establish the mutation spectrum of six genes (including HFE, HMOX1, SLC40A1, HAMP, CYBRD1 and HJV) involved in iron metabolism, in the Black South African OC population. The patient cohort comprised of 50 (25 male and 25 female) unrelated patients presenting with SCC of the oesophagus, with the control group consisting of 50 unrelated, healthy population-matched individuals. The mutation detection techniques employed included polymerase chain reaction (PCR) amplification, heteroduplex single-stranded conformational polymorphism (HEX-SSCP) analysis, restriction fragment length polymorphism (RFLP) analysis and bi-directional semi-automated DNA sequencing analysis of variants identified.

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