Case Studies in Genes and Disease: A Primer for Clinicians

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ISBN: 9781930513501 | 193051350X
Cover: Paperback
Copyright: 6/1/2004

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Progress in the field of genetics is moving faster and demonstrating accomplishments unlike ever before. Genes marking for specific diseases and methods in gene therapy are evolving rapidly and being incorporated into daily patient care. Ethical issues are under constant debate by politicians, journalists, and laymen. All health care providers need to stay informed on the research, the applicability to patient management, and the moral issues involved. Case Studies in Genes and Disease tackles all these issues for those who need it most: busy clinicians who daily see patients needing to know how advances in genetic research and therapy affect their health. Written for practitioners who are not geneticists, it does not presume an expert's familiarity with the subject. From fundamentals to specific diseases to "the dark side" of genetics, Case Studies in Genes and Disease will educate, intrigue, and astound you. Any strong structure needs a solid foundation. As more is

Introduction and Historical Context	p. 1
Introduction	p. 1
Organization of This Book	p. 2
Historical Context	p. 5
Why Study the Human Genome?	p. 15
Sidebar
Science in the Real World	p. 8
Web Resources	p. 14
Technology
Fundamentals	p. 21
Clinical Case: Sickle Cell Anemia	p. 21
The Central Dogma	p. 23
Definition	p. 23
Anatomical Highlights	p. 23
Chromosomes	p. 24
Replication	p. 27
Genetic Variability	p. 27
Alleles, Mutations, and Polymorphisms	p. 27
Meiosis	p. 28
Recombination	p. 28
Independent Assortment	p. 30
Mapping	p. 30
Transcription	p. 31
Translation	p. 34
Protein Structure and Function	p. 37
Clinical Relevance	p. 40
Endnote	p. 42
Sidebars
Knockout Mice	p. 22
Mitochondrial DNA	p. 25
Junk Genes	p. 33
Interfering RNA	p. 38
Genes and Disease	p. 43
Clinical Case: Cystic Fibrosis	p. 43
Genetic Disease Classifications	p. 46
Gross Chromosomal Anomalies	p. 47
Extra Chromosomes	p. 47
Missing Chromosomes	p. 48
Translocations	p. 48
Deletions	p. 49
Duplications	p. 50
Mosaicism	p. 50
Chimera	p. 50
Gene-Level Anomalies	p. 50
Point Mutations	p. 51
Insertions	p. 53
Deletions	p. 54
Monogenic Diseases	p. 56
Autosomal Dominant	p. 56
Autosomal Recessive	p. 56
X-Linked Dominant	p. 57
X-Linked Recessive	p. 58
Polygenic Diseases	p. 58
Mitochondrial Diseases	p. 59
Mitochondrial Inheritance	p. 61
Mutation Etiologies	p. 62
Clinical Relevance	p. 64
Endnote	p. 65
Sidebars
Good Viral Infections?	p. 63
Of Mice and Men	p. 66
Immortal Cells	p. 69
Clinical Case: Breast Cancer	p. 69
Normal Cellular Regulation	p. 72
The Genetics of Cancer	p. 74
Cancer and Cell Growth	p. 74
The Multiple-Hit Model	p. 75
Pathways	p. 79
Sporadic Mutations	p. 80
Inherited Mutations	p. 80
Environment	p. 81
Regulator Genes	p. 82
Telomeres	p. 86
Eternal Youth and Immortality	p. 88
Clinical Relevance	p. 91
Endnote	p. 92
Sidebars
Living Young	p. 89
Genetic Markers and Adjuvant Therapy	p. 92
Privacy and Genetic Susceptibility Screening	p. 94
Experimental Methods	p. 95
Clinical Case: Malignant Hyperthermia	p. 95
Pigs and Malignant Hyperthermia	p. 96
Clinical Relevance	p. 98
Enabling Technologies	p. 100
Animal Studies	p. 100
Polymerase Chain Reaction	p. 100
Restriction Enzymes	p. 102
DNA Hybridization	p. 102
DNA Probes	p. 103
Gel Electrophoresis and DNA Fingerprinting	p. 104
Diagnostic Techniques	p. 105
Gene Chips	p. 105
Gene Sequencing	p. 110
Positional Cloning	p. 111
Blotting	p. 112
Recombinant DNA	p. 113
Restriction Fragment Length Polymorphism (RFLP) Analysis	p. 114
Therapeutic Technologies	p. 114
Gene Therapy	p. 114
DNA Vaccines	p. 116
Cloning	p. 117
Endnote	p. 119
Sidebar
On the Shoulders of Mice	p. 118
Bioinformatics	p. 121
Clinical Case: Duchenne Muscular Dystrophy	p. 121
Mining the Internet	p. 123
Process Overview	p. 124
Specific Resources	p. 125
Research and Development	p. 136
Sequencing	p. 136
Databases	p. 138
Visualization	p. 138
Simulation	p. 141
Data Mining	p. 143
Endnote	p. 144
Sidebars
"Heavy Metal"	p. 129
Carbon versus Silicon	p. 139
Money Matters	p. 142
Socio-Political Arena
Designing Humans	p. 147
Clinical Case: Alzheimer's Disease	p. 147
Eugenics	p. 150
Popular Representations	p. 150
Real-World Experience	p. 151
Genomic Perspective	p. 153
Medical Therapeutics	p. 153
Gene Therapy	p. 153
Artificial Chromosomes	p. 156
Therapeutic Cloning	p. 157
Stem Cells	p. 159
Genetic Enhancement	p. 160
Preventing Obesity and Associated Diseases	p. 161
Treating Acne	p. 161
Physical Prowess	p. 162
Intelligence and Memory	p. 163
Clinical Relevance	p. 163
Endnote	p. 164
Sidebar
Voluntary Eugenics	p. 152
Evolutionary Genetics	p. 164
Genetically Modified Foods	p. 167
Clinical Case: Non-Insulin-Dependent Diabetes Mellitus	p. 167
Diet, Nutrition, and Health	p. 170
In the Beginning	p. 172
Engineered Foods	p. 174
Money Matters	p. 174
Creating Genetically Modified Crops	p. 175
Pest Control	p. 177
Extended Yield and Shelf Life	p. 177
Nutrition	p. 178
Genetically Modified Livestock	p. 178
Biopharmaceuticals	p. 179
Trouble in Paradise	p. 180
Endnote	p. 185
Sidebar
Mutant Fruit	p. 184
The Dark Side	p. 187
Clinical Case: Smallpox	p. 187
Biological Warfare	p. 189
History	p. 189
Current Threats	p. 191
Post-Genomic Developments	p. 194
Therapeutic Drug Development	p. 194
Biologicals Development	p. 195
Computers and the Internet	p. 197
Ethnically Specific Pathogens	p. 198
Defensive Measures	p. 198
Clinical Relevance	p. 203
Endnote	p. 206
Sidebar
Smallpox Vaccine: Worth the Risk?	p. 193
Chemical Gas	p. 204
The Future of Medical Practice	p. 207
Clinical Case: Myocardial Infarction	p. 207
Evolution of Western Medicine	p. 209
Applications of Post-Genomic Technologies	p. 211
Clinical and Research Medicine	p. 211
Drug Development	p. 214
Genetically Modified Organisms	p. 216
Biological Weapons and Forensics	p. 216
Biomaterials	p. 216
The Personal Genomics Movement	p. 217
Technology Convergence	p. 218
Controversial and Unresolved Issues	p. 218
Eugenics	p. 219
Animal Rights	p. 220
Right to Privacy	p. 220
Euthanasia	p. 221
Economics	p. 221
Safety of Genetically Modified Organisms	p. 221
Embryonic Stem Cells	p. 222
Biological Weapons	p. 222
Human Cloning	p. 222
Role of the Physician	p. 222
Endnote	p. 223
Sidebar
"On Your Marks, Get Set, ..."	p. 214
Glossary	p. 227
Bibliography and Further Reading	p. 243
Index	p. 257
Table of Contents provided by Rittenhouse. All Rights Reserved.

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Case Studies in Genes and Disease: A Primer for Clinicians

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Case Studies in Genes and Disease: A Primer for Clinicians

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