Disease Gene Identification

1. Front Matter

   Pages i-xii

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2. Introduction

   1. Front Matter

      Pages 1-1

      PDF

   2. Technological Issues and Experimental Design of Gene Association Studies

      • Johanna K. DiStefano, Darin M. Taverna

      Pages 3-16

   3. Statistical Issues in Gene Association Studies

      • Richard M. Watanabe

      Pages 17-36

   4. Identification of Causal Sequence Variants of Disease in the Next Generation Sequencing Era

      • Christopher B. Kingsley

      Pages 37-46

3. Methods for Gene Identification

   1. Front Matter

      Pages 47-47

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   2. Microarray-Based Genome-Wide Association Studies Using Pooled DNA

      • Szabolcs Szelinger, John V. Pearson, David W. Craig

      Pages 49-60

   3. Medium-Throughput SNP Genotyping Using Mass Spectrometry: Multiplex SNP Genotyping Using the iPLEX® Gold Assay

      • Meredith P. Millis

      Pages 61-76

   4. Targeted SNP Genotyping Using the TaqMan® Assay

      • Dorit Schleinitz, Johanna K. DiStefano, Peter Kovacs

      Pages 77-87

   5. Bar-Coded, Multiplexed Sequencing of Targeted DNA Regions Using the Illumina Genome Analyzer

      • Szabolcs Szelinger, Ahmet Kurdoglu, David W. Craig

      Pages 89-104

4. Functional Characterization of Susceptibility Alleles and Loci

   1. Front Matter

      Pages 105-105

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   2. Site-Directed Mutagenesis

      • Patricia E. Carrigan, Petek Ballar, Sukru Tuzmen

      Pages 107-124

   3. Gene Expression Profiling of Tissues and Cell Lines: A Dual-Color Microarray Method

      • Sonsoles Shack

      Pages 125-143

   4. Methods for MicroRNA Microarray Profiling

      • Aarati R. Ranade, Glen J. Weiss

      Pages 145-152

   5. Allelic Expression Profiling to Dissect Genome-Wide Association Study Signals

      • Jonathan D. Gruber

      Pages 153-170

   6. Quantitative Polymerase Chain Reaction Using the Comparative C _q Method

      • Kimberly Yeatts

      Pages 171-184

   7. Genomic Analysis by Oligonucleotide Array Comparative Genomic Hybridization Utilizing Formalin-Fixed, Paraffin-Embedded Tissues

      • Stephanie J. Savage, Galen Hostetter

      Pages 185-198

   8. RNA Mapping Protocols: Northern Blot and Amplification of cDNA Ends

      • Maria Lucrecia Alvarez, Mahtab Nourbakhsh

      Pages 199-220

   9. High-Content RNA Interference Assay: Analysis of Tau Hyperphosphorylation as a Generic Paradigm

      • RiLee H. Robeson, Travis Dunckley

      Pages 221-238

5. Alternative Approaches

   1. Front Matter

      Pages 239-239

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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
• gene expression

From the reviews:

“This is an excellent resource for innovative approaches to the identification of genes contributing to complex human diseases. … presenting detailed laboratory procedures in an easy-to-follow format that can be carried out successfully by competent experts lacking exposure to a specific research method. … will be useful for clinicians such as oncologists interested in learning about gene identification. … an excellent resource for graduate students, postdoctoral researchers, bench scientists, clinical oncologists, and hematologists interested in the fields of molecular genetics and molecular biology.” (Omer Iqbal, Doody’s Review Service, June, 2011)

• Research Institute, Diabetes, Cardiovascular, &, Translational Genomics, Phoenix, USA

  Johanna K. DiStefano

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