Richards / Hawley The Human Genome

3. Auflage 2010
ISBN: 978-0-08-091865-5
Verlag: Elsevier Science & Techn.
Format: EPUB
Kopierschutz: 6 - ePub Watermark

E-Book, Englisch, 420 Seiten

Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, Third Edition will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome, Second Edition includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information. - Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students - Full, 4-color illustration program enhances and reinforces key concepts and themes - Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers

Julia E. Richards (PhD, Genetics, University of Wisconsin) is Professor of Ophthalmology and Visual Sciences and Professor of Epidemiology at the University of Michigan in Ann Arbor where she teaches introductory genetics to graduate students in the School of Public Health. She is widely known for her research on inherited eye diseases and has published numerous chapters and research articles focused on human genetics.

Autoren/Hrsg.

Richards, Julia E.

Hawley, R. Scott

Inhaltsverzeichnis

1;Front Cover;1
2;The Human Genome;4
3;Copyright Page;5
4;Contents;8
5;Acknowledgments;12
6;Prologue: The Answer in a Nutshell;14
7;SECTION I: HOW GENES SPECIFY A TRAIT;16
7.1;Chapter 1 The Basics of Heredity: How Traits Are Passed Along in Families;18
7.1.1;1.1 Mendel's Laws;19
7.1.2;1.2 Selection: Artificial, Natural, and Sexual;27
7.1.3;1.3 Human Genetic Diversity;30
7.1.4;1.4 Human Dominant Inheritance;31
7.1.5;1.5 Human Recessive Inheritance;34
7.1.6;1.6 Complementation;42
7.1.7;1.7 Epistasis and Pleiotropy;46
7.1.8;1.8 Complex Syndromes;47
7.1.9;1.9 One Man's Disease Is Another Man's Trait;49
7.2;Chapter 2 The Double Helix: How Cells Preserve Genetic Information;56
7.2.1;2.1 Inside the Cell;57
7.2.2;2.2 DNA: The Repository of Genetic Information;59
7.2.3;2.3 DNA and the Double Helix;62
7.2.4;2.4 DNA Replication;65
7.2.5;2.5 Chromatin;71
7.2.6;2.6 What Are Chromosomes?;72
7.2.7;2.7 Euchromatin and Heterochromatin;79
7.2.8;2.8 The Mitochondrial Chromosome: The "Other Genome" in the Human Genome;80
7.2.9;2.9 DNA in vitro;82
8;SECTION II: HOW GENES FUNCTION;96
8.1;Chapter 3 The Central Dogma of Molecular Biology: How Cells Orchestrate the Use of Genetic Information;98
8.1.1;3.1 What Is RNA?;99
8.1.2;3.2 What Is RNA For?;102
8.1.3;3.3 Transcription of RNA;104
8.1.4;3.4 Orchestrating Expression;106
8.1.5;3.5 Monitoring Gene Expression;110
8.1.6;3.6 Interaction of Transcription Factors;113
8.1.7;3.7 Inducible Genes;117
8.1.8;3.8 Epigenetic Control of Gene Expression;119
8.1.9;3.9 What Constitutes Normal?;121
8.2;Chapter 4 The Genetic Code: How the Cell Makes Proteins from Genetic Information Encoded in mRNA Molecules;130
8.2.1;4.1 The Genetic Code;131
8.2.2;4.2 Moving Things In and Out of the Nucleus;134
8.2.3;4.3 The Central Dogma of Molecular Biology;135
8.2.4;4.4 Translation;135
8.2.5;4.5 Messenger RNA Structure;137
8.2.6;4.6 Splicing;139
8.2.7;4.7 Modular Genes;143
8.2.8;4.8 What Are Proteins?;145
8.2.9;4.9 Gene Products and Development;150
8.3;Chapter 5 We Are All Mutants: How Mutation Alters Function;158
8.3.1;5.1 What Is a Mutation?;159
8.3.2;5.2 The Process of Mutation;162
8.3.3;5.3 How We Detect Mutations;168
8.3.4;5.4 Basic Mutations;174
8.3.5;5.5 Mutations in DNA Sequences that Regulate Gene Expression;181
8.3.6;5.6 Copy Number Variation: Too Much or Too Little of a Good Thing;182
8.3.7;5.7 Expanded Repeat Traits;184
8.3.8;5.8 The Male Biological Clock;195
8.3.9;5.9 Mutation Target Size;195
8.3.10;5.10 Absent Essentials and Monkey Wrenches;198
9;SECTION III: HOW CHROMOSOMES MOVE;212
9.1;Chapter 6 Mitosis and Meiosis: How Cells Move Your Genes Around;214
9.1.1;6.1 The Cell Cycle;215
9.1.2;6.2 Mitosis;216
9.1.3;6.3 Gametogenesis: What Is Meiosis Trying to Accomplish?;222
9.1.4;6.4 Meiosis in Detail;226
9.1.5;6.5 Mechanisms of Chromosome Pairing in Meiosis;232
9.1.6;6.6 The Chromosomal Basis of Heredity;234
9.1.7;6.7 Aneuploidy: When Too Much or Too Little Counts;239
9.1.8;6.8 Uniparental Disomy;245
9.1.9;6.9 Partial Aneuploidies;251
9.1.10;6.10 The Female Biological Clock;253
9.1.11;Appendix 6.1 Failed Meiotic Segregation (Nondisjunction) as Proof of the Chromosome Theory of Heredity;255
9.2;Chapter 7 The Odd Couple: How the X and Y Chromosomes Break the Rules;262
9.2.1;7.1 Passing the X and Y Chromosomes between Generations;263
9.2.2;7.2 How Humans Cope with the Difference in Number of Sex Chromosomes between Males and Females;264
9.2.3;7.3 How X Inactivation Works;265
9.2.4;7.4 Skewed X Inactivation – When Most Cells Inactivate the Same X;266
9.2.5;7.5 Genes that Escape X-Inactivation;270
9.2.6;7.6 Reactivation of the Inactive X Chromosome in the Female Germline;270
9.2.7;7.7 X Chromosome Inactivation During Male Meiosis;270
9.2.8;7.8 X Inactivation and the Phenotypes of Sex Chromosome Aneuploidy;272
9.2.9;7.9 The Structure of the Human Y Chromosome;274
9.2.10;7.10 X-Linked Recessive Inheritance;277
9.2.11;7.11 X-Linked Dominant Inheritance;280
10;SECTION IV: HOW GENES CONTRIBUTE TO COMPLEX TRAITS;286
10.1;Chapter 8 Sex Determination: How Genes Determine a Developmental Choice;288
10.1.1;8.1 Sex as a Complex Developmental Characteristic;289
10.1.2;8.2 What Do the X and Y Chromosomes Have to Do With Sex?;293
10.1.3;8.3 SRY on the Y: The Genetic Determinant of Male Sexual Differentiation;294
10.1.4;8.4 The Role of Hormones in Early Development;297
10.1.5;8.5 Androgen Receptor on the X: Another Step in the Sexual Differentiation Pathway;300
10.1.6;8.6 Genetics of Gender Identification;302
10.1.7;8.7 Genetics of Sexual Orientation;303
10.2;Chapter 9 Complexity: How Traits Can Result from Combinations of Factors;314
10.2.1;9.1 Digenic Diallelic Inheritance;315
10.2.2;9.2 Digenic Triallelic Inheritance;319
10.2.3;9.3 Multifactorial Inheritance;320
10.2.4;9.4 Quantitative Traits;322
10.2.5;9.5 Additive Effects and Thresholds;324
10.2.6;9.6 Is It Genetic?;325
10.2.7;9.7 Genes and Environment: Inducible Traits;327
10.2.8;9.8 Genes and Environment: Infectious Disease;330
10.2.9;9.9 Phenocopies;334
10.2.10;9.10 Genotypic Compatibility: Whose Genome Matters?;337
10.2.11;9.11 Phenotypic Heterogeneity: One Gene, Many Traits;339
10.2.12;9.12 Genotypic and Phenotypic Heterogeneity;340
10.2.13;9.13 Variable Expressivity;343
10.2.14;9.14 Phenotypic Modifiers;344
10.2.15;9.15 Biochemical Pathways Underlying Complexity;346
10.2.16;9.16 Behavioral Genetics;349
10.2.17;9.17 Genes Expression: Another Level of Complexity;352
10.3;Chapter 10 The Multiple-Hit Hypothesis: How Genes Play a Role in Cancer;358
10.3.1;10.1 The War on Cancer;359
10.3.2;10.2 Cancer as a Defect in Regulation of the Cell Cycle;360
10.3.3;10.3 Cancer as a Genetic Disease;361
10.3.4;10.4 Cancer and the Environment;363
10.3.5;10.5 Tumor Suppressor Genes and the Two-Hit Hypothesis;363
10.3.6;10.6 Cell-Type Specificity of Tumor Suppressor Gene Defects;367
10.3.7;10.7 The Multi-Hit Hypothesis;368
10.3.8;10.8 The Activation of Proto-Oncogenes and the Role of Oncogenes in Promoting Cancer;370
10.3.9;10.9 Defects in DNA Repair;372
10.3.10;10.10 Personalized Medicine;373
10.3.11;10.11 Cancer Biomarkers;376
11;SECTION V: HOW GENES ARE FOUND;382
11.1;Chapter 11 The Gene Hunt: How Genetic Maps Are Built and Used;384
11.1.1;11.1 What Is a Genetic Map?;385
11.1.2;11.2 What Is a Genetic Marker?;387
11.1.3;11.3 Finding Genes before There Were Maps;393
11.1.4;11.4 Defining the Thing to Be Mapped;395
11.1.5;11.5 Recombination as a Measure of Genetic Distance;397
11.1.6;11.6 Physical Maps and Physical Distances;403
11.1.7;11.7 How Did They Build Genetic Maps?;408
11.1.8;11.8 After the Map: What Came Next?;411
11.2;Chapter 12 The Human Genome: How the Sequence Enables Genome-wide Studies;420
11.2.1;12.1 The Human Genome Project;421
11.2.2;12.2 The Human Genome Sequence;431
11.2.3;12.3 The Other Genome Projects;433
11.2.4;12.4 The Genes in the Human Genome;435
11.2.5;12.5 Human Genome Variation;443
11.2.6;12.6 Genome-wide Technologies;447
11.2.7;12.7 Genome-wide Association;448
11.2.8;12.8 Allele Sharing and Sib Pair Analysis;454
11.2.9;12.9 Copy Number Variation and Gene Dosage;455
11.2.10;12.10 Whole Genome Sequencing;458
12;SECTION VI: HOW GENES PLAY A ROLE IN TESTING AND TREATMENT;468
12.1;Chapter 13 Genetic Testing and Screening: How Genotyping Can Offer Important Insights;470
12.1.1;13.1 What Is Medical Genetics?;472
12.1.2;13.2 Screening vs. Testing;474
12.1.3;13.3 Preimplantation Genetic Screening;476
12.1.4;13.4 Prenatal Diagnosis During the First Trimester;478
12.1.5;13.5 Prenatal Diagnosis During the Second Trimester;480
12.1.6;13.6 Amniocentesis and Chorionic Villus Sampling;481
12.1.7;13.7 Analysis of Fetal Cells;484
12.1.8;13.8 Sex Selection;488
12.1.9;13.9 Newborn Screening;489
12.1.10;13.10 Adult Genetic Screening and Testing;490
12.1.11;13.11 Ethical, Legal, and Social Issues;495
12.2;Chapter 14 Magic Bullets: How Gene-based Therapies Personalize Medicine;502
12.2.1;14.1 Replacing a Lost Gene or Funtion – The RPE Story;503
12.2.2;14.2 Replacing a Lost Gene – ADA Deficiency;507
12.2.3;14.3 Targeting Downstream Disease Pathology;508
12.2.4;14.4 Suppressing the Unwanted Genotype – Use of siRNAs and miRNAs;510
12.2.5;14.5 Gene Supplement Therapy – More of the Same;512
12.2.6;14.6 Strategies for Cancer Therapy;513
12.2.7;14.7 Gene-based Therapy Instead of Gene Therapy;515
12.2.8;14.8 Delivering Gene Therapy;517
12.2.9;14.9 Do We Have to Treat the Whole Body?;518
12.2.10;14.10 What Are the Biggest Problems with Gene Therapy?;520
12.2.11;14.11 So, Whom Do We Treat?;521
12.3;Chapter 15 Fears, Faith, and Fantasies: How the Past and Present Shape the Future of Genomic Medicine;528
12.3.1;15.1 Fears – A Tale of Eugenics;529
12.3.2;15.2 Faith – A Tale of Ethical, Legal, and Social Advances;533
12.3.3;15.3 Fantasies – A Tale of Our Genetic Future;537
13;Answers to Study Questions;542
14;Glossary;568
14.1;A;568
14.2;B;569
14.3;C;570
14.4;D;573
14.5;E;574
14.6;F;575
14.7;G;575
14.8;H;576
14.9;I;578
14.10;J;579
14.11;K;579
14.12;L;579
14.13;M;580
14.14;N;581
14.15;O;582
14.16;P;582
14.17;Q;584
14.18;R;584
14.19;S;586
14.20;T;587
14.21;U;589
14.22;V;589
14.23;W;589
14.24;X;589
14.25;Z;589
15;Index;590
15.1;A;590
15.2;B;590
15.3;C;590
15.4;D;591
15.5;E;592
15.6;F;593
15.7;G;593
15.8;H;594
15.9;I;594
15.10;J;595
15.11;K;595
15.12;L;595
15.13;M;595
15.14;N;596
15.15;O;596
15.16;P;596
15.17;Q;597
15.18;R;597
15.19;S;598
15.20;T;598
15.21;U;599
15.22;V;599
15.23;W;599
15.24;X;599
15.25;Y;600
15.26;Z;600