Molecular methods for the detection of mutations

C. Monteiro*, L. A. Marcelino, A. R. Conde, C. Saraiva, M. Giphart-Gassler, A. G. De Nooij-van Dalen, V. Van Buuren-van Seggelen, M. Van Der Keur, C. A. May, J. Cole, A. R. Lehmann, H. Steinsgrimsdottir, D. Beare, E. Capulas, J. A L Armour

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


We report the results of a collaborative study aimed at developing reliable, direct assays for mutation in human cells. The project used common lymphoblastoid cell lines, both with and without mutagen treatment, as a shared resource to validate the development of new molecular methods for the detection of low-level mutations in the presence of a large excess of normal alleles. As the 'gold standard,' hprt mutation frequencies were also measured on the same samples. The methods under development included i) the restriction site mutation (RSM) assay, in which mutations lead to the destruction of a restriction site; ii) minisatellite length-change mutation, in which mutations lead to alleles containing new numbers of tandem repeat units; iii) loss of heterozygosity for HLA epitopes, in which antibodies can be used to direct selection for mutant cells; iv) multiple fluorescence-based long linker arm nucleotides assay (mf-LLA) technology, for the detection of substitutional mutations; v) detection of alterations in the TP53 locus using a (CA) array as the target for the screening; and vi) PCR analysis of lymphocytes for the presence of the BCL2 t(14:18) translocation. The relative merits of these molecular methods are discussed, and a comparison made with more 'traditional' methods. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)357-386
Number of pages30
JournalTeratogenesis Carcinogenesis and Mutagenesis
Issue number6
StatePublished - 2000


  • BCL2 (AR Lehmann)
  • HLA locus
  • Hprt
  • Human population monitoring
  • Instability
  • Mf-LLA
  • Minisatellite
  • Minisatellites
  • Mutagenesis (J Cole) restriction site mutations
  • Small-pool PCR (CA May) p53

ASJC Scopus subject areas

  • Oncology
  • Genetics
  • Toxicology
  • Genetics(clinical)
  • Health, Toxicology and Mutagenesis


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