Human genes and genomes: science, health, society
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Amsterdam [u.a.]
Elsevier, AP
2012
|
| Edition: | 1. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XXIII, 421 S. Ill., graph. Darst. |
| ISBN: | 9780123852120 0123852129 |
Staff View
MARC
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Record in the Search Index
| _version_ | 1804149111806492672 |
|---|---|
| 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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| isbn | 9780123852120 0123852129 |
| language | English |
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| physical | XXIII, 421 S. Ill., graph. Darst. |
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| spelling | Rosenberg, Leon E. 1933- Verfasser (DE-588)1023021692 aut Human genes and genomes science, health, society Leon E. Rosenberg ; Diane Drobnis Rosenberg 1. ed. Amsterdam [u.a.] Elsevier, AP 2012 XXIII, 421 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Genomik (DE-588)4776397-8 gnd rswk-swf Humangenetik (DE-588)4072653-8 gnd rswk-swf Humangenetik (DE-588)4072653-8 s DE-604 Genomik (DE-588)4776397-8 s 1\p DE-604 Rosenberg, Diane Drobnis 1944- Verfasser (DE-588)1023021307 aut Digitalisierung UB Regensburg application/pdf 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 Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| 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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