Human genes and genomes science, health, society
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| Hauptverfasser: | , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Amsterdam [u.a.]
Elsevier, AP
2012
|
| Ausgabe: | 1. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
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MARC
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| 100 | 1 | |a Rosenberg, Leon E. |d 1933- |e Verfasser |0 (DE-588)1023021692 |4 aut | |
| 245 | 1 | 0 | |a Human genes and genomes |b science, health, society |c Leon E. Rosenberg ; Diane Drobnis Rosenberg |
| 250 | |a 1. ed. | ||
| 264 | 1 | |a Amsterdam [u.a.] |b Elsevier, AP |c 2012 | |
| 300 | |a XXIII, 421 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 0 | 7 | |a Genomik |0 (DE-588)4776397-8 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Humangenetik |0 (DE-588)4072653-8 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
| DE-BY-UBR_call_number | 91/WG 7000 R813 |
|---|---|
| DE-BY-UBR_katkey | 4970655 |
| DE-BY-UBR_location | 91 |
| DE-BY-UBR_media_number | 069036568716 |
| _version_ | 1822758405057544192 |
| adam_text | CONTENTS
ABOUT THE AUTHORS
.................................................................................................xi
FOREWORD
..............................................................................................................xiii
PREFACE
..................................................................................................................xv
ACKNOWLEDGEMENTS
...........................................................................................xxiii
PART
1 ·
Introduction and Core Concepts
CHAPTER
1
Framing the Field
...................................................................................3
Rationale for Studying Genetics and Genomics
.....................................................4
Why Study Human Genetics and Genomics Now?
..................................................6
Divergent Public Reactions to the Field
................................................................7
Anticipated Returns on Educational Investment
....................................................8
Review Questions and Exercises
..........................................................................8
CHAPTER
2
Introducing the Core Concepts
................................................................9
Chapter
3:
Genetic Variability
.............................................................................10
Chapter
4:
Growth, Development, and Reproduction
............................................10
Chapter
5:
Transmission of Genes
......................................................................10
Chapter
6:
Structure of Genes, Chromosomes, and Genomes
...............................10
Chapter
7:
Expression of Genes and Genomes
.....................................................11
Chapter
8:
Mutation
..........................................................................................11
Chapter
9:
Biological Evolution
..........................................................................12
Chapter
10:
Human Individuality
.........................................................................12
Chapter
11:
Chromosome Abnormalities
.............................................................12
Chapter
12:
Single-Gene Defects
........................................................................13
Chapter
13:
Multifactorial Traits
........................................................................13
Chapter
14:
Disorders of Variable Genomic Architecture
......................................14
Chapter
15:
Birth Defects
..................................................................................14
Chapter
16:
The Genetics of Cancer
...................................................................15
Chapter
17:
Detection and Treatment of Genetic Disorders
.................................16
Chapter
18:
Population and Evolutionary Genetics
..............................................17
Chapter
19:
Personalized Genetics and Genomics
...............................................18
CHAPTER
3
Genetics
..............................................................................................19
Heredity and Variation
.......................................................................................19
History
..............................................................................................................19
Conservation of Genetic Information
...................................................................24
Human Variation
................................................................................................25
Review Questions and Exercises
........................................................................25
CHAPTER
4
Growth. Development, and Reproduction
...............................................27
Chromosomes: Number and Nature
.....................................................................28
Cell Division
......................................................................................................28
Prenatal Development
........................................................................................40
Review Questions and Exercises
........................................................................49
vii
CONTENTS
viii
CHAPTER
5
Transmission of Genes
..........................................................................51
Familial Similarities
...........................................................................................52
Mendelian Inheritance
.......................................................................................52
Applying Principles of Gene Segregation to Genetic Counseling
...........................67
Exceptions to Expected Mendelian Patterns
.......................................................68
MItochondrial
Inheritance
..................................................................................70
Review Questions and Exercises
........................................................................72
CHAPTER
6
Structure of Genes, Chromosomes, and Genomes
..................................75
Gene Composition
.............................................................................................75
From Genes and Chromosomes to Genomes
........................................................84
Review Questions and Exercises
........................................................................96
CHAPTER
7
Expression of Genes and Genomes
........................................................97
Gene Expression: History of Research
.................................................................98
The Ribonucleic Acids (RNAs)
............................................................................99
Transcription and Processing
...........................................................................100
The Genetic Code
............................................................................................102
Translation: Synthesis of an mRNA-directed Polypeptide
....................................104
Regulation of Gene Expression
.........................................................................106
Genomic Variation
...........................................................................................113
Review Questions and Exercises
......................................................................115
CHAPTER
8
Mutation
............................................................................................117
Nature of Mutations
.........................................................................................117
Review Questions and Exercises
......................................................................123
CHAPTER
9
Biological Evolution
............................................................................125
Historical Evidence Supporting the Theory of Biological Evolution
......................125
Evolutionary Principles
.....................................................................................126
Molecular Evolution
.........................................................................................131
Review Questions and Exercises
......................................................................132
CHAPTER
10
Human Individuality
............................................................................135
Uniqueness
.....................................................................................................135
Early Observations Regarding Uniqueness
.........................................................136
Lessons from Genomics
...................................................................................136
Review Questions and Exercises
......................................................................138
PART
2 ·
Genetic Disorders
CHAPTER
11
Chromosome Abnormalities
................................................................141
Introduction to Cytogenetics
............................................................................142
Clinical Indications for Chromosome Analysis
....................................................146
Impact of Chromosome Abnormalities on Health
...............................................146
Types of Chromosome Abnormalities
................................................................147
Illustrative Examples
.......................................................................................153
Review Questions and Exercises
......................................................................166
CHAPTER
12
Single-Gene Defects
...........................................................................169
Archibald Garrod
..............................................................................................170
Terms and Principles
.......................................................................................174
Panorama of Single-Gene Defects
.....................................................................174
CONTENTS
Illustrative
Examples.......................................................................................
177
Review
Questions and Exercises
......................................................................195
CHAPTER
13
Multifactorial Traits
............................................................................197
Definitions and Formulations
............................................................................199
Determining the Role of Genes
.........................................................................201
Identification of Specific Susceptibility
Alíeles
..................................................208
Illustrative Examples
.......................................................................................211
Review Questions and Exercises
......................................................................224
CHAPTER
14
Disorders of Variable Genomic Architecture
.........................................227
Architecture of the Genome
.............................................................................228
Human Genomic Variation
................................................................................230
Illustrative Examples
.......................................................................................233
Review Questions and Exercises
......................................................................239
CHAPTER
15
Birth Defects
.....................................................................................241
Introduction
....................................................................................................242
Embryonic Development
...................................................................................243
Developmental Genetics
..................................................................................245
Teratogens
......................................................................................................250
Illustrative Examples
.......................................................................................253
Review Questions and Exercises
......................................................................258
CHAPTER
16
The Genetics of Cancer
......................................................................259
Overview
.........................................................................................................260
Biology of Cancer
............................................................................................263
Cancer Genetics
..............................................................................................268
IX
Cancer Genes
..................................................................................................270
Genomic Approaches to Cancer
........................................................................276
The Environment and Cancer
............................................................................279
Illustrative Examples
.......................................................................................281
Review Questions and Exercises
......................................................................287
CHAPTER
17
Detection and Treatment of Genetic Disorders
.....................................289
Detection
........................................................................................................291
Genetic Counseling
..........................................................................................297
Treatment
.......................................................................................................299
Gene Therapy
..................................................................................................306
Stem Cell Therapy
...........................................................................................310
Review Questions and Exercises
......................................................................313
PART
3 ·
Populations and Individuals
CHAPTER
18
Population and Evolutionary Genetics
..................................................317
Terminology
....................................................................................................318
The Hardy-Weinberg Law
..................................................................................320
Factors that Perturb Hardy-Weinberg Equilibrium
...............................................325
Ancestry and Disease in the Genomic Era
.........................................................329
Evolution in Populations
...................................................................................331
Societal Debates about Evolution: Science Versus Religion
...............................336
Review Questions and Exercises
......................................................................337
CONTENTS
CHAPTER
19
Personalized Genetics and Genomics
..................................................339
DNA
Fingerprinting
..........................................................................................340
Genetics and Medicines
...................................................................................345
Pharmacogenetics
...........................................................................................347
Pharmacogenomics
.........................................................................................353
Direct-to-Consumer Genomic Tests
...................................................................354
Review Questions and Exercises
......................................................................357
GLOSSARY
.............................................................................................................359
ADDITIONAL READING
............................................................................................373
ANSWERS TO REVIEW QUESTIONS
..........................................................................379
CREDITS AND PERMISSIONS
..................................................................................397
INDEX
....................................................................................................................405
|
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| author | Rosenberg, Leon E. 1933- Rosenberg, Diane Drobnis 1944- |
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| bvnumber | BV040142675 |
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| id | DE-604.BV040142675 |
| illustrated | Illustrated |
| indexdate | 2024-12-24T02:40:14Z |
| institution | BVB |
| isbn | 9780123852120 0123852129 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-024999576 |
| oclc_num | 796231346 |
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| owner_facet | DE-355 DE-BY-UBR DE-578 DE-29 |
| physical | XXIII, 421 S. Ill., graph. Darst. |
| publishDate | 2012 |
| publishDateSearch | 2012 |
| publishDateSort | 2012 |
| publisher | Elsevier, AP |
| record_format | marc |
| spellingShingle | Rosenberg, Leon E. 1933- Rosenberg, Diane Drobnis 1944- Human genes and genomes science, health, society Genomik (DE-588)4776397-8 gnd Humangenetik (DE-588)4072653-8 gnd |
| subject_GND | (DE-588)4776397-8 (DE-588)4072653-8 |
| title | Human genes and genomes science, health, society |
| title_auth | Human genes and genomes science, health, society |
| title_exact_search | Human genes and genomes science, health, society |
| title_full | Human genes and genomes science, health, society Leon E. Rosenberg ; Diane Drobnis Rosenberg |
| title_fullStr | Human genes and genomes science, health, society Leon E. Rosenberg ; Diane Drobnis Rosenberg |
| title_full_unstemmed | Human genes and genomes science, health, society Leon E. Rosenberg ; Diane Drobnis Rosenberg |
| title_short | Human genes and genomes |
| title_sort | human genes and genomes science health society |
| title_sub | science, health, society |
| topic | Genomik (DE-588)4776397-8 gnd Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Genomik Humangenetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024999576&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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