Molecular Diagnosis of Genetic Diseases

  • Rob Elles
  • Roger Mountford

Part of the Methods in Molecular Medicine™ book series (MIMM, volume 92)

Table of contents

  1. Front Matter
    Pages i-x
  2. Michael P. Bulman
    Pages 1-8
  3. Claire F. Taylor, Graham R. Taylor
    Pages 9-44
  4. John F. Harvey, Julian R. Sampson
    Pages 45-66
  5. Andrew J. Wallace
    Pages 81-114
  6. Chris Mattocks, Patrick Tarpey, Jo Whittaker
    Pages 115-124
  7. John A. L. Armour, Isa A. Rad, Ed J. Hollox, Seyed M. Akrami, Gareth S. Cross
    Pages 125-139
  8. Valérie Biancalana, James Macpherson
    Pages 157-182
  9. Linda Meredith
    Pages 183-202
  10. John M. Old
    Pages 203-219
  11. Harry Cuppens, Elisabeth Dequeker, Jean-Jacques Cassiman
    Pages 221-224
  12. Fiona Macdonald
    Pages 245-266
  13. Sian Ellard
    Pages 267-283
  14. Meena Upadhyaya, Peter Thompson, Song Han, David N. Cooper
    Pages 285-310
  15. Alexander L. J. Kneppers, Ieke B. Ginjaar, Egbert Bakker
    Pages 311-341
  16. Hans Scheffer
    Pages 343-358
  17. Els Voorhoeve, Alexander L. J. Kneppers, Simon Patton
    Pages 359-368
  18. Ulf Kristoffersson
    Pages 369-375
  19. Back Matter
    Pages 377-387

About this book


In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls.
Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Editors and affiliations

  • Rob Elles
    • 1
  • Roger Mountford
    • 2
  1. 1.UK National Genetics Reference LaboratoryManchesterUK
  2. 2.Liverpool Women’s HospitalLiverpoolUK

Bibliographic information

  • DOI
  • Copyright Information Humana Press 2004
  • Publisher Name Humana Press, Totowa, NJ
  • eBook Packages Springer Protocols
  • Print ISBN 978-0-89603-932-2
  • Online ISBN 978-1-59259-432-0
  • Series Print ISSN 1543-1894
  • Series Online ISSN 1940-6037
  • Buy this book on publisher's site