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PCR-Based Methods for Mutation Detection

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Molecular Diagnostics

Part of the book series: Pathology and Laboratory Medicine ((PLM))

Abstract

Since its development in 1985 the polymerase chain reaction (PCR) has revolutionized basic and applied research (1,2). With DNA or cDNA as a template, millions of copies of a target sequence are generated during the reaction. Introduction of the thermophilic Thermus aquaticus polymerase increased the specificity of the reaction and made automation and routine use possible (3–5). The ability of PCR to produce multiple copies of a discrete portion of the genome has resulted in its incorporation into techniques used in a wide variety of research and clinical applications. Clinical applications include diagnosis of inherited disease, HLA typing, identity testing, infectious disease diagnosis, and management, hematologic disease diagnosis and staging and susceptibility testing for cancer.

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Authors
  1. Elizabeth M. Rohlfs
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  2. W. Edward Highsmith Jr.
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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA

    William B. Coleman

  2. Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, CT, USA

    Gregory J. Tsongalis

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© 1997 Springer Science+Business Media New York

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Rohlfs, E.M., Highsmith, W.E. (1997). PCR-Based Methods for Mutation Detection. In: Coleman, W.B., Tsongalis, G.J. (eds) Molecular Diagnostics. Pathology and Laboratory Medicine. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-4757-2588-9_7

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  • DOI: https://doi.org/10.1007/978-1-4757-2588-9_7

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4757-2590-2

  • Online ISBN: 978-1-4757-2588-9

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