Disease Gene Identification

Methods and Protocols

  • Johanna K. DiStefano

Part of the Methods in Molecular Biology book series (MIMB, volume 700)

Table of contents

  1. Front Matter
    Pages i-xii
  2. Introduction

    1. Front Matter
      Pages 1-1
    2. Johanna K. DiStefano, Darin M. Taverna
      Pages 3-16
    3. Richard M. Watanabe
      Pages 17-36
  3. Methods for Gene Identification

    1. Front Matter
      Pages 47-47
    2. Szabolcs Szelinger, John V. Pearson, David W. Craig
      Pages 49-60
    3. Dorit Schleinitz, Johanna K. DiStefano, Peter Kovacs
      Pages 77-87
    4. Szabolcs Szelinger, Ahmet Kurdoglu, David W. Craig
      Pages 89-104
  4. Functional Characterization of Susceptibility Alleles and Loci

  5. Alternative Approaches

    1. Front Matter
      Pages 239-239
    2. Vivek Kaimal, Divya Sardana, Eric E. Bardes, Ranga Chandra Gudivada, Jing Chen, Anil G. Jegga
      Pages 241-259
    3. Sukru Tuzmen, Pinar Tuzmen, Shilpi Arora, Spyro Mousses, David Azorsa
      Pages 271-290
  6. Erratum

  7. Back Matter
    Pages 309-312

About this book


Recent efforts to characterize genetic variation in the human genome, coupled with the rapidly developing field of genomics, have lead directly to the development of new and innovative approaches to the identification of genes contributing to complex human diseases. In Disease Gene Identification: Methods and Protocols, expert researchers in the field provide up-to-date molecular methodologies used in the process of identifying a disease gene, from the initial stage of study design to the next stage of preliminary locus identification, and ending with stages involved in target characterization and validation. As a volume in the highly successful Methods in Molecular Biology™ series, chapters contain brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and detailed tips on troubleshooting and avoiding known pitfalls. Authoritative and essential, Disease Gene Identification: Methods and Protocols seeks to aid scientists striving toward the identification and characterization of the many disease-related genes, which may someday pave the way for more accurate and improved methods of disease diagnosis as well as vital strategies for disease treatment and prevention.


Complex human diseases Expression profiling Genetic mutations Molecular approaches SNP genotyping Susceptibility alleles and loci

Editors and affiliations

  • Johanna K. DiStefano
    • 1
  1. 1.Research Institute, Diabetes, Cardiovascular, &Translational GenomicsPhoenixUSA

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media, LLC 2011
  • Publisher Name Humana Press, Totowa, NJ
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-61737-953-6
  • Online ISBN 978-1-61737-954-3
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site