The University of Southampton
University of Southampton Institutional Repository

Mutation analysis of large genomic regions in tumor DNA using single-strand conformation polymorphism. Lessons from the ATM gene

Vorechovsky, Igor (2002) Mutation analysis of large genomic regions in tumor DNA using single-strand conformation polymorphism. Lessons from the ATM gene Methods in Molecular Medicine, 68, pp. 115-124. (doi:10.1385/1-59259-135-3:115).

Record type: Article


In recent years, we have seen a dramatic improvement in our ability to detect nucleotide changes in tumor DNA using a number of techniques for mutation detection that have become routine instruments in many laboratories. The choice of a suitable method or methods of mutation analysis is governed by many factors, including the costs, experimental sensitivity, expected mutation pattern in the target sequence and its functional consequences, as well as staff expertise, personal experience, and preference. The primary selection criterion for such a method is the ability of a technique to search for the presence of unknown mutations in the analyzed regions (scanning methods) as opposed to looking for known mutations already characterized at the nucleotide level. Scanning procedures represent a cost-effective alternative to nucleotide sequencing (see Chapter 13), but usually at a price of an inferior detection rate. The former group of techniques includes procedures based on conformation polymorphism changes, denaturing gradient gel electrophoresis (see Chapter 10), constant denaturant capillary electrophoresis, and mismatch repair and RNase cleavage methods (see Chapter 11). The latter group, exemplified by techniques using sequence-specific oligonucleotides, oligonucleotide liagation assay, and ligase chain reaction (1), is less frequently used for analyzing molecular changes in tumor samples. A wise choice of most appropriate procedures is a crucial step for the identification of molecular changes underlying cancer development and for the correct interpretation of mutation screening.

Full text not available from this repository.

More information

Published date: 10 October 2002
Keywords: methods, proteins, mutation, single-stranded conformational, dna mutational analysis, sweden, neoplasms, ataxia, polymerase chain reaction, analysis, humans, polymorphism


Local EPrints ID: 60370
ISSN: 1543-1894
PURE UUID: 8f20f415-3cfb-445c-ab8e-ac67fe06dd4f

Catalogue record

Date deposited: 08 Sep 2008
Last modified: 17 Jul 2017 14:23

Export record


Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton:

ePrints Soton supports OAI 2.0 with a base URL of

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.