Affiliations: Centre for Occupational and Environmental Health,
Doris Duke Medical Research Institute, Nelson R Mandela School of Medicine,
University of KwaZulu-Natal, South Africa | Department of Chemical Pathology, Nelson R Mandela
School of Medicine, University of KwaZulu-Natal, South Africa | Department of Physiology, Nelson R Mandela School of
Medicine, University of KwaZulu-Natal, South Africa | Faculty of Health Sciences, Technikon Witwatersrand,
Johannesburg, South Africa
Note: [] Corresponding author: Paul K. Chelule, Centre for Occupational
and Environmental Health, Doris Duke Medical Research Institute, Nelson R
Mandela School of Medicine, University of KwaZulu-Natal, Private Bag 7 Congella
4013, South Africa. Tel.: +27 031 260 4471; Fax: +27 031 260 4663; E-mail:
[email protected]
Abstract: Polymorphisms in the promoter region of the Cytochrome P4502E1
(CYP2E1) gene reportedly modify the metabolic activity of CYP2E1 enzyme, and
have been associated with increased susceptibility to squamous cell carcinoma
(SCC) of the oesophagus in high prevalence areas such as China. To assess the
frequency of these polymorphisms in Black South Africans, a population with a
high incidence of oesophageal SCC, this study examined genomic DNA from 331
subjects for restriction fragment length polymorphisms in the CYP2E1 (RsaI and
PstI digestion). The frequency of the CYP2E1 c1/c1 and c1/c3 genotypes was 95%
and 5% respectively. The frequency of the CYP2E1 allele distribution was found
to be markedly different between Chinese and South African populations; hence
it is important to place racial differences into consideration when proposing
allelic variants as genetic markers for cancer.
