Abstract
Most commonly used techniques to detect (point) mutations, e.g., SSCP, DGGE, chemical mismatch cleavage and heteroduplex analysis, are versatile techniques which have proven their usefulness (for references see other chapters in this book). Still, they all have their limitations. They use genomic DNA as starting material and reveal all sequence changes, including silent mutations and sequence variations in coamplified noncoding sequences. They can only be used to analyze small regions, 100–600 bp depending on the technique used. They do not pinpoint the site (except chemical mismatch cleavage) or the type of the mutation. Sequence changes identified in or close to, for example, splice sites or a promoter, require further analysis to verify their effect at a cellular level. Finally, several frequently mutated genes have been identified whose structure precludes an efficient analysis with the techniques mentioned; they are very large and split into many exonic fragments (sometimes over 70).
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Den Dunnen, J.T., Roest, P.A.M., Van Der Luijt, R.B., Hogervorst, F.B.L. (1996). The Protein Truncation Test (PTT) for Rapid Detection of Translation-Terminating Mutations. In: Pfeifer, G.P. (eds) Technologies for Detection of DNA Damage and Mutations. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-0301-3_24
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DOI: https://doi.org/10.1007/978-1-4899-0301-3_24
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