PCR-Based Methods for Mutation Detection

  • Elizabeth M. Rohlfs
  • W. Edward HighsmithJr.
Part of the Pathology and Laboratory Medicine book series (PLM)


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 (35). 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.


Polymerase Chain Reaction Product Duchenne Muscular Dystrophy Multiplex Polymerase Chain Reaction Adenomatous Polyposis Coli Gene Dystrophin Gene 
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Copyright information

© Springer Science+Business Media New York 1997

Authors and Affiliations

  • Elizabeth M. Rohlfs
  • W. Edward HighsmithJr.

There are no affiliations available

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