Case Studies in Genes and Disease Book

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