Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols (original) (raw)

European Journal of Human Genetics volume 6, pages 145–150 (1998)Cite this article

Abstract

In order to develop a selective mutation screening strategy for BRCA1, one of the gene responsible for hereditary predisposition to breast cancer, we analysed by single-strand conformation polymorphism (SSCP) and conformation-sensitive gel electrophoresis (CSGE) a cohort of 20 Bulgarian breast cancer patients, prescreened for nonsense mutations by the protein truncation test. By assaying the complete coding sequence of the gene applying both methods, we were able to detect 12 sequence alterations: 11 nucleotide substitutions and one deletion. Two of the alterations are intronic polymorphisms, the rest are exon sequence variants. Of the 12 polymorphisms identified, 11 are described and one is new. All sequence changes were detected by CSGE and eight of them were also shown by SSCP analysis. There was no sequence alterations which could be detected by SSCP analysis only. We propose that because of the specificity of most sequence variants detected (nucleotide substitutions) and the comparatively high percentage of AT content of the BRCA1 gene (58.4%), CSGE turned out to be the more sensitive technique in our assay. This observation is in agreement with other accepted analysis strategies for BRCA1 and it may prove useful for mutation screening of AT-rich, multi-exon genes.

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  1. Institut für Humangenetik der Universität Münster, Germany
    Arseni Markoff, Helene Sormbroen, Nadia Bogdanova, Sabine Preisler-Adams, Bernd Dworniczak & Jürgen Horst
  2. Department of Chemistry and Biochemistry, Medical Faculty, Sofia, Bulgaria
    Arseni Markoff & Varban Ganev

Authors

  1. Arseni Markoff
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  2. Helene Sormbroen
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  3. Nadia Bogdanova
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  4. Sabine Preisler-Adams
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  5. Varban Ganev
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  6. Bernd Dworniczak
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  7. Jürgen Horst
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Markoff, A., Sormbroen, H., Bogdanova, N. et al. Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols.Eur J Hum Genet 6, 145–150 (1998). https://doi.org/10.1038/sj.ejhg.5200171

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