Detection of point mutations in the p53 gene: Comparison of single‐strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

Condie, Alison, Eeles, Rosalind, Borresen, Anne-Lise, Coles, Christopher, Cooper, Colin ORCID: https://orcid.org/0000-0003-2013-8042 and Prosser, Jane (1993) Detection of point mutations in the p53 gene: Comparison of single‐strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques. Human Mutation, 2 (1). pp. 58-66. ISSN 1059-7794

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Abstract

A comparison was made between the 3 most commonly used techniques for the detection of point mutations: single‐strand conformation polymorphism (SSCP), constant denaturant gel electrophoresis (CDGE), and hydroxylamine and osmium tetroxide used in amplification mismatch cleavage analysis (HOT). Using human DNA samples containing known mutations in the p53 gene, SSCP detected 90% of mutations (18/20), CDGE detected 88% (15/17) pre‐decoding of the samples but 100% when the mutations were known and the CDGE conditions optimized, and the HOT technique was 100% accurate, although 1 mutation was missed through careless examination of the gel. The positive and negative aspects of each of the techniques are considered and suggestions are made regarding the particular situations in which each of them is most useful.

Item Type: Article
Uncontrolled Keywords: cdge,chemical mismatch,hot,p53,point mutation,sscp,genetics,genetics(clinical) ,/dk/atira/pure/subjectarea/asjc/1300/1311
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Related URLs:
Depositing User: LivePure Connector
Date Deposited: 18 Jul 2022 17:30
Last Modified: 13 Aug 2022 02:24
URI: https://ueaeprints.uea.ac.uk/id/eprint/86521
DOI: 10.1002/humu.1380020111

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