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Essentials of Medical Genomics

De
456 pages
  • Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays
  • New edition responds to reviewers' and users' desire for greater coverage—now the most useful handbook on the market!
  • Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know
  • Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics
  • NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook
  • NEW: PowerPoint slides of images available at instructor website
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Contents
1
2
3
Preface, xi
Introduction to Molecular Genetics, 1 The Principles of Inheritance,3 Genes Are Made of DNA,10 DNA Structure,12 The Central Dogma,18 References,29
Molecular Biology Technology, 31 Cut, Copy, and Paste,31 Restriction Enzymes,31 DNA Cloning Is Copying,33 PCR Is Cloning without the Bacteria,37 DNA Sequencing,40 References,50
Genome Databases, 53 Genome Sequencing,53 Entrez,55 BLAST,58 Genome Annotation,59 Genome Browser,62 Human Genetic Diseases,66 A System for Naming Genes,68 Model Organisms (Comparative Genomics),69
v
vi
4
5
6
7
Sequencing Other Genomes,74 References,77
Bioinformatics Tools, 79 Patterns and Tools,79 Sequence Comparison,82 Multiple Alignment,86 Pattern Finding,88 Phylogenetics,94 Biotechnology Exercise,97 References,101
Human Genetic Variation, 103 Mutation,103 Single-Nucleotide Polymorphisms,107 Linkage,110 Multigene Diseases,112 Genetic Testing,112 SNP Chips,114 The HapMap Project,115 Research Uses of SNP Markers,119 Ethnicity and Genome Diversity,120 References,124
C o n t e n t s
Genetic Testing for the Practitioner, 127 Harry Ostrer Clinical Applications of Genetic Testing,128 Methods of Genetic Testing,131 Adequacy of Genetic Testing,136 Informed Consent,137 Genetic Counseling,137 Clinical Vignettes,138 References,140
Gene Therapy, 143 John G. Hay Historical Perspective,143 Strategies of Gene Therapy,144 DNA Elements for Gene Expression,145 Gene Delivery Systems,146
C o n t e n t s
8
9
10
11
12
Targeting Gene Delivery,160 Formative Years and Initial Clinical Approaches,167 The Problems,175 The Future,177 References,177
Microarrays, 179 Spotting versus Synthesis on the Chip,182 Other Types of Arrays,187 Differential Gene Expression,188 Error and Reliability,195 Evolutionary Perspectives,197 References,198
Analysis of Microarray Data, 201 Experimental Design,202 Data Analysis Workflow,205 Functional Analysis,215 Validation,218 References,220
Pharmacogenomics and Toxicogenomics, 223 Pharmacogenomics,223 Environmental Chemicals,229 Toxicogenomics for Drug Development,231 References,235
Clinical Research Informatics, 237 Clinical Databases,237 Clinical Trials Management,240 Data Standards and Ontologies,242 Tissue Banks,246 Application to Medical Practice,248 References,249
RNA Interference and MicroRNAs, 251 Antisense RNA,252 RNA Interference,253
vii
viii
13
14
15
16
17
Ribozymes,268 References,268
Alternative Splicing, 271 Exon Arrays,280 Medical Applications of Alternative Splicing,282 References,285
C o n t e n t s
Genome Tiling Chips, 287 Genome Chips,287 Resequencing Chips,288 Whole-Genome Transcription Profiling,289 ChIP-chip,293 ArrayCGH,295 References,298
Cancer Genomics, 301 Understanding Cancer Genomics,301 Copy Number Mutations,304 Gene Expression Signatures,309 Cancer Genome Atlas,313 References,316
Proteomics, 319 Protein Modifications,320 Quantitative Approaches,321 Biomarkers,325 Protein Databases,330 Protein–Protein Interactions,331 DNA-Binding Proteins,334 Structural Proteomics,335 Drug Targets,337 References,337
Consumer Genomics and Genealogy, 339 Genealogy,339 Nutrigenomics,347
C o n t e n t s
18
Privacy Concerns,352 References,353
The Ethics of Medical Genomics, 355 Eugenics,356 Human Genome Diversity Project and Population Genetics,360 Genetic Discrimination,366 Impact on Physicians and Researchers,369 Clinical Research,374 References,376
Appendix: Genetic Testing: Scientific Background for Policymakers, 379 Amanda K. Sarata
Glossary, 397 Index, 419
ix