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Molecular Diagnosis of Genetic Diseases

  • Book
  • © 2004

Overview

Editors:
  1. Rob Elles

    1. UK National Genetics Reference Laboratory, Manchester, UK

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  2. Roger Mountford

    1. Liverpool Women’s Hospital, Liverpool, UK

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

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

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Table of contents (19 protocols)

  1. Front Matter

    Pages i-x
    Download chapter PDF

  2. Optimizing PCR for Clinical Diagnosis

    • Michael P. Bulman
    Pages 1-8

  3. Current and Emerging Techniques for Diagnostic Mutation Detection

    • Claire F. Taylor, Graham R. Taylor
    Pages 9-44

  4. Mutation Scanning for the Clinical Laboratory

    • John F. Harvey, Julian R. Sampson
    Pages 45-66

  5. Mutation Scanning for the Clinical Laboratory-Protein Truncation Test

    • Yvonne Wallis
    Pages 67-79

  6. Mutation Scanning for the Clinical Laboratory

    • Andrew J. Wallace
    Pages 81-114

  7. Comparative Sequence Analysis

    • Chris Mattocks, Patrick Tarpey, Jo Whittaker
    Pages 115-124

  8. Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization

    • John A. L. Armour, Isa A. Rad, Ed J. Hollox, Seyed M. Akrami, Gareth S. Cross
    Pages 125-139

  9. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR

    • Kathy Mann
    Pages 141-156

  10. Fragile X Disease

    • ValĂ©rie Biancalana, James Macpherson
    Pages 157-182

  11. Huntington’s Disease

    • Linda Meredith
    Pages 183-202

  12. Hematological Applications

    • John M. Old
    Pages 203-219

  13. Cystic Fibrosis

    • Harry Cuppens, Elisabeth Dequeker, Jean-Jacques Cassiman
    Pages 221-224

  14. Familial Adenomatous Polyposis

    • Fiona Macdonald
    Pages 245-266

  15. Multiple Endocrine Neoplasia Types 1 and 2

    • Sian Ellard
    Pages 267-283

  16. Neurofibromatosis Type 1

    • Meena Upadhyaya, Peter Thompson, Song Han, David N. Cooper
    Pages 285-310

  17. Duchenne and Becker Muscular Dystrophy

    • Alexander L. J. Kneppers, Ieke B. Ginjaar, Egbert Bakker
    Pages 311-341

  18. Spinal Muscular Atrophy

    • Hans Scheffer
    Pages 343-358

  19. Quality Management in Molecular Genetics

    • Els Voorhoeve, Alexander L. J. Kneppers, Simon Patton
    Pages 359-368

  20. Regulation of Genetic Testing in Clinical Practice

    • Ulf Kristoffersson
    Pages 369-375
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About this book

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. 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. These 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. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Reviews

Reviews of the first edition:

"The chapters are clear and well written, and the book would be useful to those looking for a technique manual directed specifically toward clinical application of molecular genetic diagnostic testing. Three Stars" -Doody's Health Sciences Book Review Journal

"The book's scope, crisp text, attention to details, and spiral binding all make this a useful benchtop reference manual, to which this already stained copy will testify." -Laboratory Corporation of America

"With its contribution to the series Methods in Molecular Medicine, Rob Elles has filled a gap...provides a fairly complete view on the current state of the art in clinical molecular genetics. A wealth of information and experience is described by Elles." -Med Genet

"This book will be widely welcomed by scientists involved in the molecular diagnosis of inherited disorders. For the first time, protocols, support information and references for a dozen single gene disorders are gathered into a single source." -Trends in Genetics

Editors and Affiliations

  • UK National Genetics Reference Laboratory, Manchester, UK

    Rob Elles

  • Liverpool Women’s Hospital, Liverpool, UK

    Roger Mountford

Bibliographic Information

  • Book Title: Molecular Diagnosis of Genetic Diseases

  • Editors: Rob Elles, Roger Mountford

  • Series Title: Methods in Molecular Medicine

  • DOI: https://doi.org/10.1385/1592594328

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 2004

  • Hardcover ISBN: 978-0-89603-932-2Published: 20 October 2003

  • Softcover ISBN: 978-1-61737-259-9Published: 09 November 2010

  • eBook ISBN: 978-1-59259-432-0Published: 01 February 2008

  • Series ISSN: 1543-1894

  • Series E-ISSN: 1940-6037

  • Edition Number: 2

  • Number of Pages: X, 387

  • Topics: Human Genetics

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