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Mutagenesis vol. 19 no. 1 pp. 3-11, January 2004
© 2004 UK Environmental Mutagen Society/Oxford University Press

REVIEW The restriction site mutation (RSM) method: clinical applications

G.J.S. Jenkins1, *

Swansea Clinical School, University of Wales Swansea, Singleton Park, Swansea SA28PP, UK

The restriction site mutation (RSM) method has been developed over the past 13 years as a sensitive mutation test which can detect mutations in restriction sites in any gene. Due to the fact that 5/8 of the main mutation hotspots in the TP53 gene fall within restriction sites, RSM can analyse them for the presence of rare mutations (1 mutation in 10 000 non-mutated copies). After validating the usefulness of RSM in detecting mutagen-induced mutations, we recently turned our attention to looking for TP53 mutations in pre-malignant tissue. We show here that RSM can detect early TP53 mutations in pre-malignant tissue of the oesophagus, stomach, colon and bladder. We can also use these clinical mutation data to speculate as to the causative mutagens involved in these cancer conditions. We here use an example of mutations detected in gastric tissue and those induced in vitro by hydrogen peroxide.

1Tel: +44 1792 295361; Fax: +44 1792 295447; Email: mailto:g.j.jenkins{at}swansea.ac.uk
*Recipient of the 2002 UKEMS Young Scientist Award and the 2003 EEMS Young Scientist Award

Received on June 23, 2003; revised and; accepted on September 25, 2003


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