Disease gene identification : methods and protocols / edited by Johanna K. DiStefano. — New York, NY : Humana Press, c2011. – (58.17/M592/v.700)

Contents

    CONTENTS
    
    PART I INTRODUCTION
    1 Technological Issues and Experimental Design of Gene Association Studies
    2 Statistical Issues in Gene Association Studies
    3 Identification of Causal Sequence Variants of Disease in the Next Generation Sequencing Era
    PART II METHODS FOR GENE IDENTIFICATION
    4 Microarray-Based Genome-Wide Association Studies Using Pooled DNA
    5 Medium-Throughput SNP Genotyping Using Mass Spectrometry Multiplex SNP Genotyping Using the iPLEX Gold Assay
    6 Targeted SNP Genotyping Using the TaqMan Assay
    7 Bar-Coded， Multiplexed Sequencing of Targeted DNA Regions Using the Illumina Genome Analyzer 89
    PART III FUNCTIONAL CHARACTERIZATION OF SUSCEPTIBILITY ALLELES AND LOCI
    8 Site-Directed Mutagenesis
    9 Gene Expression Profiling of Tissues and Cell Lines: A Dual-Color Microarray Method
    10 Methods for MicroRNA Microarray Profiling
    11 Allelic Expression Profiling to Dissect Genome-Wide Association Study Signals
    12 Quantitative Polymerase Chain Reaction Using the Comparative C Method
    13 Genomic Analysis by Oligonucleotide Array Comparative Genomic Hybridization Utilizing Formalin-Fixed， Paraffin-Embedded Tissues
    14 RNA Mapping Protocols: Northern Blot and Amplification of cDNA Ends
    15 High-Content RNA Interference Assay: Analysis of Tau Hyperphosphorylation as a Generic Paradigm
    PART IV ALTERNATIVE APPROACHES
    16 Integrative Systems Biology Approaches to Identify and Prioritize Disease and Drug Candidate Genes 241
    17 Identification of a Common Variant Affecting Human Episodic Memory Performance Using a Pooled Genome-Wide Association Approach: A Case Study of Disease Gene Identification
    18 RNAi-Based Functional Pharmacogenomics
    19 Genetic Predisposition to β-Thalassemia and Sickle Cell Anemia in Turkey: A Molecular Diagnostic Approach
    Index