Emery's Elements of Medical Genetics Elsevier eBook on VitalSource, 14th Edition
Elsevier eBook on VitalSource
Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient online access at www.studentconsult.com. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice.
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- Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics.
- Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams.
- Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008.
Search the entire contents online at www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing.
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- Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more.
- Understand complex concepts with the help of an increased number of diagrams.
- Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.
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SECTION A
PRINCIPLES OF HUMAN GENETICS
1 The History and Impact of Genetics in
Medicine 3
Gregor Mendel and the Laws of Inheritance 3
DNA as the Basis of Inheritance 5
The Fruit Fly 6
The Origins of Medical Genetics 7
The Impact of Genetic Disease 8
Major New Developments 9
2 The Cellular and Molecular Basis of
Inheritance 13
The Cell 13
DNA: The Hereditary Material 13
Chromosome Structure 15
Types of DNA Sequence 15
Transcription 18
Translation 19
The Genetic Code 20
Regulation of Gene Expression 21
RNA-directed DNA Synthesis 22
Mutations 22
Mutations and Mutagenesis 26
3 Chromosomes and Cell Division 31
Human Chromosomes 31
Methods of Chromosome Analysis 33
Molecular Cytogenetics 34
Chromosome Nomenclature 37
Cell Division 38
Gametogenesis 41
Chromosome Abnormalities 42
4 DNA Technology and Applications 53
DNA Cloning 53
Techniques of DNA Analysis 57
5 Mapping and Identifying Genes
for Monogenic Disorders 73
Position-Independent Identification of Human Disease
Genes 73
Positional Cloning 75
The Human Genome Project 76
6 Developmental Genetics 83
Fertilization and Gastrulation 83
Developmental Gene Families 85
Role of Cilia in Developmental Abnormalities 96
The Limb as a Developmental Model 97
Developmental Genes and Cancer 100
Positional Effects and Developmental Genes 101
Hydatidiform Moles 101
Sexual Differentiation and Determination 101
Epigenetics and Development 103
Twinning 106
7 Patterns of Inheritance 109
Family Studies 109
Mendelian Inheritance 109
Multiple Alleles and Complex Traits 119
Anticipation 120
Mosaicism 120
Uniparental Disomy 121
Genomic Imprinting 121
Mitochondrial Inheritance 126
8 Population and Mathematical
Genetics 129
Allele Frequencies in Populations 129
Genetic Polymorphism 135
Segregation Analysis 135
Genetic Linkage 136
Medical and Societal Intervention 139
Conclusion 140
9 Polygenic and Multifactorial
Inheritance 143
Polygenic Inheritance and the Normal
Distribution 143
Multifactorial Inheritance—The Liability/Threshold
Model 145
Heritability 146
Identifying Genes that Cause Multifactorial
Disorders 146
Conclusion 150
SECTION B
GENETICS IN MEDICINE
10 Hemoglobin and the
Hemoglobinopathies 155
Structure of Hb 155
Developmental Expression of Hemoglobin 155
Globin Chain Structure 156
Synthesis and Control of Hemoglobin
Expression 157
Disorders of Hemoglobin 157
Clinical Variation of the Hemoglobinopathies 163
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xii Contents
Antenatal and Newborn Hemoglobinopathy
Screening 164
11 Biochemical Genetics 167
Inborn Errors of Metabolism 167
Disorders of Amino Acid Metabolism 167
Disorders of Branched-Chain Amino Acid
Metabolism 172
Urea Cycle Disorders 172
Disorders of Carbohydrate Metabolism 172
Disorders of Steroid Metabolism 174
Disorders of Lipid Metabolism 175
Lysosomal Storage Disorders 176
Disorders of Purine/Pyrimidine Metabolism 178
Disorders of Porphyrin Metabolism 179
Organic-Acid Disorders 180
Disorders of Copper Metabolism 180
Peroxisomal Disorders 180
Disorders Affecting Mitochondrial Function 181
Prenatal Diagnosis of Inborn Errors
of Metabolism 183
12 Pharmacogenetics 185
Definition 185
Drug Metabolism 185
Genetic Variations Revealed by the Effects of
Drugs 186
Pharmacogenetics 188
13 Immunogenetics 193
Immunity 193
Innate Immunity 193
Specific Acquired Immunity 195
Inherited Immunodeficiency Disorders 201
Blood Groups 204
14 Cancer Genetics 209
Differentiation between Genetic and Environmental
Factors in Cancer 209
Oncogenes 211
Tumor Suppressor Genes 214
Epigenetics and Cancer 218
Genetics of Common Cancers 219
Genetic Counseling in Familial Cancer 225
15 Genetic Factors in Common Diseases 233
Genetic Susceptibility to Common Disease 233
Types and Mechanisms of Genetic Susceptibility 233
Approaches to Demonstrating Genetic Susceptibility
to Common Diseases 233
Disease Models for Multifactorial Inheritance 235
Type 1 Diabetes 237
Type 2 Diabetes 238
Crohn Disease 238
Hypertension 239
Coronary Artery Disease 240
Schizophrenia 242
Alzheimer Disease 243
Hemochromatosis 244
Venous Thrombosis 244
Age-Related Macular Degeneration 245
SECTION C
CLINICAL GENETICS
16 Congenital Abnormalities and Dysmorphic
Syndromes 249
Incidence 249
Definition and Classification of Birth Defects 250
Genetic Causes of Malformations 254
Environmental Agents (Teratogens) 259
Malformations of Unknown Cause 262
Counseling 263
17 Genetic Counseling 265
Definition 265
Establishing the Diagnosis 265
Calculating and Presenting the Risk 266
Discussing the Options 267
Communication and Support 267
Genetic Counseling—Directive
or Non-Directive? 268
Outcomes in Genetic Counseling 268
Special Problems in Genetic Counseling 269
18 Chromosome Disorders 273
Incidence of Chromosome Abnormalities 273
Disorders of the Sex Chromosomes 276
Chromosome Deletion and Microdeletion
Syndromes 280
Disorders of Sexual Differentiation 287
Chromosomal Breakage Syndromes 288
Xeroderma Pigmentosa 289
Indications for Chromosomal/Microarray-CGH
Analysis 289
19 Single-Gene Disorders 293
Huntington Disease 293
Myotonic Dystrophy 295
Hereditary Motor and Sensory Neuropathy 296
Neurofibromatosis 298
Marfan Syndrome 300
Cystic Fibrosis 301
Inherited Cardiac Arrhythmias and
Cardiomyopathies 304
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Peter D Turnpenny, BSc MB ChB DRCOG DCH FRCP FRCPCH FRCPath FHEA, Consultant Clinical Geneticist, Royal Devon and Exeter Hospital
Senior Clinical Lecturer, Peninsula Medical School, Exeter, UK and Sian Ellard, BSc, PhD, FRCPath, OBE, Consultant Clinical Molecular Geneticist, Royal Devon and Exeter Hospital
Professor of Human Molecular Genetics, Peninsula Medical School, Exeter, UK
