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Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

C Mattocks·P Tarpey·M Bobrow·J Whittaker
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Abstract

Direct sequencing analysis is largely used to confirm and characterize mutations previously detected by more rapid tests. We have developed a method-Comparative Sequence Analysis (CSA)-that simplifies the analysis of sequencing data facilitating its use as a first screen for mutation detection. Sequence data were split into their component electrophoretograms and the use of a size standard enabled equivalent traces from different individuals to be overlaid. This allowed simple and rapid visual analysis of the results. Using this technique in a blind study, we tested 576 samples for mutations in the Von Hippel-Lindau tumor suppressor gene, VHL. We were able to identify and characterize all 78 known mutations present within the sample set (100% sensitivity and specificity).

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DNA Mutational AnalysisDNA, ComplementaryDideoxynucleosidesElectrophoresisFluorescent DyesFrameshift MutationGenes, Tumor SuppressorHumansPoint MutationPolymerase Chain ReactionSequence Analysis, DNASingle-Blind MethodSoftwarevon Hippel-Lindau DiseaseComparative StudyJournal Article

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C Mattocks, P Tarpey, M Bobrow, J Whittaker. 2000. Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.. https://doi.org/10.1002/1098-1004(200011)16%3A5%3C437%3A%3Aaid-humu9%3E3.0.co%3B2-q

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