Use of Denaturing High-Performance Liquid Chromatography in Molecular Medicine

  • Elizabeth L. Rugg
  • Gareth J. Magee
Part of the Springer Protocols Handbooks book series (SPH)


The molecular diagnosis of hereditary and somatic disorders is a rapidly expanding field in modern medicine. Mutations in more than 1500 genes have been found to be associated with human diseases, and this figure is likely to rise significantly over the next few years as the genetic basis of more conditions becomes known. DNA sequencing is still probably the most widely used and reliable method of detecting gene mutations and sequence variations. However, it is expensive and time-consuming, and, increasingly, other methods are employed to screen DNA fragments for sequence variations. For a screening method to be useful, it must be fast, inexpensive and applicable to most genes. Ideally, it needs to provide information about the nature and position of a mutation and to minimize exposure of laboratory staff to hazardous reagents. Many of the protocols currently used fit some of these criteria, but there are few, if any, that fulfill all.


Sequence Variation Pathogenic Mutation Epidermolysis Bullosa Polymerase Chain Reaction Fragment Familial Hemiplegic Migraine 
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Copyright information

© Humana Press Inc., Totowa, NJ 2005

Authors and Affiliations

  • Elizabeth L. Rugg
    • 1
  • Gareth J. Magee
    • 2
    • 3
  1. 1.Department of DermatologyUniversity of CaliforniaIrvine
  2. 2.Centre for Cutaneous Research, Barts and the London, Queen Mary’s School of Medicine and DentistryUniversity of LondonLondonUK
  3. 3.Biomedical Research CentreNinewells Hospital and Medical SchoolDundee, ScotlandUK

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