Human Genetics : Concepts and Applications

by Lewis, Ricki

• ISBN13: 9780073016443
• ISBN10: 0073016446
• Edition: 6th
• Format: Hardcover
• Copyright: 2004-02-01
• Publisher: MCGRAW HILL PUBLISHING CO

Table of Contents

About the Author	p. iii
List of Boxes	p. vi
Clinical Coverage	p. vii
Preface	p. xii
Visual Preview	p. xvi
Introduction	p. 1
Overview of Genetics	p. 1
Genetic Testing	p. 2
The Breadth of Genetics	p. 4
DNA	p. 4
Genes, Chromosomes, and Genomes	p. 6
Cells, Tissues, and Organs	p. 6
Individual	p. 6
Family	p. 6
Population	p. 7
Evolution	p. 7
Genes Do Not Usually Function Alone	p. 9
Geneticists Use Statistics to Represent Risks	p. 10
Applications of Genetics	p. 10
Establishing Identity and Origins	p. 11
Health Care	p. 13
Agriculture	p. 15
Genetics from a Global Perspective	p. 16
Cells	p. 21
The Components of Cells	p. 22
Chemical Constituents of Cells	p. 23
Organelles	p. 23
The Plasma Membrane	p. 28
The Cytoskeleton	p. 30
Cell Division and Death	p. 33
The Cell Cycle	p. 34
Apoptosis	p. 35
Cell-Cell Interactions	p. 38
Signal Transduction	p. 38
Cellular Adhesion	p. 38
Stem Cells and Cell Specialization	p. 39
Cell Lineages	p. 39
Stem Cell Technology Using Embryos	p. 40
Stem Cell Technology Using Cells from Adults	p. 40
Development	p. 47
The Reproductive System	p. 48
The Male	p. 48
The Female	p. 48
Meiosis	p. 49
Gamete Maturation	p. 53
Sperm Development	p. 53
Oocyte Development	p. 54
Prenatal Development	p. 56
Fertilization	p. 56
Early Events-Cleavage and Implantation	p. 56
The Embryo Forms	p. 58
Supportive Structures	p. 59
Multiples	p. 60
The Embryo Develops	p. 62
The Fetus	p. 63
Birth Defects	p. 64
The Critical Period	p. 64
Teratogens	p. 64
Maturation and Aging	p. 66
Adult-Onset Inherited Disorders	p. 67
Accelerated Aging Disorders	p. 67
Is Longevity Inherited?	p. 69
Transmission Genetics	p. 73
Mendelian Inheritance	p. 73
Following the Inheritance of One Gene-Segregation	p. 74
Mendel the Man	p. 74
Mendel's Experiments	p. 74
Terms and Tools to Follow Segregating Genes	p. 76
Single-Gene Inheritance in Humans	p. 78
Modes of Inheritance	p. 78
Solving a Problem: Segregation	p. 83
On the Meaning of Dominance and Recessiveness	p. 83
Following the Inheritance of Two Genes Independent Assortment	p. 84
Mendel's Second Law	p. 84
Solving a Problem: Following More Than One Segregating Gene	p. 85
Pedigree Analysis	p. 86
Pedigrees Then and Now	p. 86
Pedigrees Display Mendel's Laws	p. 87
Solving a Problem: Conditional Probability	p. 88
Extensions and Exceptions to Mendel's Laws	p. 93
When Gene Expression Appears to Alter Mendelian Ratios	p. 94
Lethal Allele Combinations	p. 94
Multiple Alleles	p. 94
Different Dominance Relationships	p. 95
Epistasis-When One Gene Affects Expression of Another	p. 96
Penetrance and Expressivity	p. 97
Pleiotropy-One Gene, Many Effects	p. 97
Phenocopies-When It's Not in the Genes	p. 98
Genetic Heterogeneity-More than One Way to Inherit a Trait	p. 98
The Human Genome Sequence Adds Perspective	p. 98
Maternal Inheritance and Mitochondrial Genes	p. 100
Mitochondrial Disorders	p. 101
Heteroplasmy Complicates Mitochondrial Inheritance	p. 102
Mitochondrial DNA Studies Clarify the Past	p. 102
Linkage	p. 102
Linkage Was Discovered in Pea Plants	p. 102
Linkage Maps	p. 103
Solving a Problem: Linked Genes in Humans	p. 105
The Evolution of Gene Mapping	p. 106
Matters of Sex	p. 111
Sexual Development	p. 112
Sex Chromosomes	p. 112
The Phenotype Forms	p. 113
Is Homosexuality Inherited?	p. 116
Traits Inherited on Sex Chromosomes	p. 118
X-Linked Recessive Inheritance	p. 119
X-Linked Dominant Inheritance	p. 120
Solving a Problem: X-Linked Inheritance	p. 123
X Inactivation Equalizes the Sexes	p. 124
Sex-Limited and Sex-Influenced Traits	p. 126
Sex-Limited Traits	p. 126
Sex-Influenced Traits	p. 127
Genomic Imprinting	p. 127
Silencing the Contribution from One Parent	p. 127
Imprinting Disorders in Humans	p. 128
A Sheep With a Giant Rear End	p. 128
Multifactorial Traits	p. 133
Genes and the Environment Mold Most Traits	p. 134
Polygenic Traits Are Continuously Varying	p. 135
Fingerprint Patterns	p. 135
Height	p. 135
Eye Color	p. 136
A Closer Look at Skin Color	p. 136
Methods Used to Investigate Multifactorial Traits	p. 138
Empiric Risk	p. 138
Heritability-The Genetic Contribution to a Multifactorial Trait	p. 140
Adopted Individuals	p. 141
Twins	p. 141
Association Studies	p. 143
Some Multifactorial Traits	p. 145
Heart Health	p. 145
Body Weight	p. 146
The Genetics of Behavior	p. 153
Genes Contribute to Most Behavioral Traits	p. 154
Eating Disorders	p. 155
Sleep	p. 157
Narcolepsy	p. 157
Familial Advanced Sleep Phase Syndrome	p. 158
Intelligence	p. 158
Drug Addiction	p. 160
Mood Disorders	p. 161
Schizophrenia	p. 163
DNA and Chromosomes	p. 167
DNA Structure and Replication	p. 167
Experiments Identify and Describe the Genetic Material	p. 168
DNA Is the Hereditary Molecule	p. 168
DNA Is the Hereditary Molecule-and Protein Is Not	p. 168
Deciphering the Structure of DNA	p. 169
DNA Structure	p. 172
DNA Replication-Maintaining Genetic Information	p. 177
Replication Is Semiconservative	p. 177
Steps and Participants in DNA Replication	p. 178
PCR-Directing DNA Replication	p. 180
Gene Action: From DNA to Protein	p. 185
Transcription-The Link Between Gene and Protein	p. 186
RNA Structure and Types	p. 186
Transcription Factors	p. 188
Steps of Transcription	p. 189
RNA Processing	p. 189
Translation of a Protein	p. 191
Deciphering the Genetic Code	p. 191
Building a Protein	p. 194
Protein Folding	p. 197
Control of Gene Expression	p. 203
Gene Expression Through Time and Tissue	p. 204
Globin Chain Switching	p. 204
Building Tissues and Organs	p. 205
Proteomics	p. 206
Mechanisms of Gene Expression	p. 207
The Histone Code	p. 207
RNA Interference	p. 208
Proteins Outnumber Genes	p. 209
The "Other" 98.5 Percent of the Human Genome	p. 211
Noncoding (nc) RNAs	p. 211
Repeats	p. 212
Gene Mutation	p. 215
Mutations Can Alter Proteins-Three Examples	p. 216
The Beta Globin Gene	p. 216
Disorders of Orderly Collagen	p. 217
A Mutation That Causes Early-Onset Alzheimer Disease	p. 219
Multiple Mutations and Confusion	p. 220
Causes of Mutation	p. 220
Spontaneous Mutation	p. 220
Induced Mutations	p. 222
Natural Exposure to Mutagens	p. 223
Types of Mutations	p. 224
Point Mutations	p. 224
Splice Site Mutations	p. 226
Deletions and Insertions Can Cause Frameshifts	p. 226
Pseudogenes and Transposons Revisited	p. 228
Expanding Repeats Lead to Protein Misfolding	p. 228
The Importance of a Mutation's Position in the Gene	p. 231
Globin Variants	p. 231
Inherited Susceptibility to Prion Disorders	p. 232
Factors That Lessen the Effects of Mutation	p. 232
DNA Repair	p. 233
Types of DNA Repair	p. 233
DNA Repair Disorders	p. 234
Chromosomes	p. 239
Portrait of a Chromosome	p. 240
Telomeres and Centromeres Are Essential	p. 240
Karyotypes Are Chromosome Charts	p. 242
Visualizing Chromosomes	p. 244
Obtaining Cells for Chromosome Study	p. 244
Preparing Cells for Chromosome Observation	p. 246
Abnormal Chromosome Number	p. 249
Polyploidy	p. 250
Aneuploidy	p. 250
Abnormal Chromosome Structure	p. 255
Deletions and Duplications	p. 256
Translocations	p. 257
Inversions	p. 259
Isochromosomes and Ring Chromosomes	p. 260
Uniparental Disomy-Two Genetic Contributions from One Parent	p. 262
Population Genetics	p. 267
When Allele Frequencies Stay Constant	p. 267
The Importance of Knowing Allele Frequencies	p. 268
When Allele Frequencies Stay Constant	p. 268
Hardy-Weinberg Equilibrium	p. 268
Solving a Problem: The Hardy-Weinberg Equation	p. 269
Practical Applications of Hardy-Weinberg Equilibrium	p. 270
DNA Profiling-A Practical Test of Hardy-Weinberg Assumptions	p. 272
DNA Patterns Distinguish Individuals	p. 272
Population Statistics Are Used to Interpret DNA Profiles	p. 273
DNA Profiling to Identify World Trade Center Victims	p. 276
Changing Allele Frequencies	p. 281
Nonrandom Mating	p. 282
Migration	p. 283
Historical Clues	p. 283
Geographical and Linguistic Clues	p. 284
Genetic Drift	p. 284
The Founder Effect	p. 284
Population Bottlenecks	p. 287
Mutation	p. 288
Natural Selection	p. 288
Tuberculosis Ups and Downs-and Ups	p. 289
Evolving HIV	p. 290
Balanced Polymorphism	p. 291
Gene Genealogy	p. 296
PKU Revisited	p. 297
CF Revisited	p. 298
Human Origins and Evolution	p. 303
Human Origins	p. 304
The Australopithecines-and Others?	p. 305
Homo	p. 306
Modern Humans	p. 308
Molecular Evolution	p. 309
Comparing Genes and Genomes	p. 310
Solving a Problem: Comparing Chimps and Humans	p. 311
Comparing Chromosomes	p. 313
Comparing Protein Sequences	p. 314
Molecular Clocks	p. 318
Neanderthals Revisited	p. 318
Tracking the Sexes: mtDNA and the Y Chromosome	p. 319
Eugenics	p. 321
Immunity and Cancer	p. 329
Genetics of Immunity	p. 329
The Importance of Cell Surfaces	p. 330
Pathogens	p. 330
Genetic Control of Immunity	p. 330
Blood Groups	p. 331
The Human Leukocyte Antigens	p. 332
The Human Immune System	p. 334
Physical Barriers and the Innate Immune Response	p. 334
The Adaptive Immune Response	p. 335
Abnormal Immunity	p. 339
Inherited Immune Deficiencies	p. 339
Acquired Immune Deficiency Syndrome	p. 339
Autoimmunity	p. 340
Allergies	p. 342
Altering Immune Function	p. 343
Vaccines	p. 343
Immunotherapy	p. 344
Transplantation	p. 346
A Genomic View of Immunity-The Pathogen's Perspective	p. 348
Crowd Diseases	p. 348
Bioweapons	p. 348
The Genetics of Cancer	p. 353
Cancer as a Genetic Disorder	p. 354
From Single Mutations to Sweeping Changes in Gene Expression	p. 354
Loss of Cell Cycle Control	p. 354
Inherited Versus Sporadic Cancer	p. 355
Characteristics of Cancer Cells	p. 357
Genes That Cause Cancer	p. 359
Oncogenes	p. 359
Tumor Suppressors	p. 361
A Series of Genetic Changes Causes Some Cancers	p. 365
A Rapidly Growing Brain Tumor	p. 365
Colon Cancer	p. 365
Cancer Prevention, Diagnosis, and Treatment	p. 367
Investigating Environmental Causes of Cancer	p. 367
Diagnosing and Treating Cancer	p. 368
Genetic Technology	p. 373
Genetically Modified Organisms	p. 373
Of Pigs and Patents	p. 374
Recombinant DNA Technology	p. 375
Constructing Recombinant DNA Molecules-An Overview	p. 376
Isolating the Gene of Interest	p. 377
Selecting Recombinant DNA Molecules	p. 378
Delivering DNA in Plants and Animals	p. 379
Applications of Recombinant DNA Technology	p. 381
Drugs	p. 381
Textiles	p. 382
Paper and Wood Products	p. 382
Food	p. 383
Bioremediation	p. 384
Gene Targeting	p. 385
Gene-Targeted Mice as Models	p. 385
When Knockouts Are Normal	p. 386
Antisense Technology	p. 387
Gene Therapy and Genetic Counseling	p. 391
Gene Therapy Successes and Setbacks	p. 392
Adenosine Deaminase Deficiency-Early Success	p. 392
Ornithine Transcarbamylase Deficiency-A Setback	p. 393
A Success in the Making-Canavan Disease	p. 395
The Mechanics of Gene Therapy	p. 396
Treating the Phenotype	p. 397
Germline Versus Somatic Gene Therapy	p. 397
Sites of Somatic Gene Therapy	p. 398
Gene Delivery	p. 401
A Closer Look: Treating Sickle Cell Disease	p. 402
Genetic Screening and Genetic Counseling	p. 403
Genetic Counselors Provide Diverse Services	p. 403
Scene from a Sickle Cell Disease Clinic	p. 404
Genetic Counseling Quandaries and Challenges	p. 404
Perspective: A Slow Start, New Complications, But Great Promise	p. 405
Reproductive Technologies	p. 409
Infertility and Subfertility	p. 410
Male Infertility	p. 410
Female Infertility	p. 411
Infertility Tests	p. 413
Assisted Reproductive Technologies	p. 413
Donated Sperm-Intrauterine Insemination	p. 413
A Donated Uterus-Surrogate Motherhood	p. 413
In Vitro Fertilization	p. 415
Gamete Intrafallopian Transfer	p. 415
Oocyte Banking and Donation	p. 416
Preimplantation Genetic Screening and Diagnosis	p. 417
On the Subject of "Spares"	p. 419
The Age of Genomics	p. 425
Genome Sequencing: A Continuation of Genetics	p. 426
The Origin of the Idea	p. 428
The Sanger Method of DNA Sequencing	p. 428
The Project Starts	p. 430
Technology Drives the Sequencing Effort	p. 431
Into the Future	p. 433
A Multilevel House	p. 433
New Types of Studies	p. 436
Epilogue: Genome Information Will Affect You	p. 436
Answers to End-of-Chapter Questions	p. A-1
Glossary	p. G-1
Credits	p. C-1
Index	p. I-1
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