Emery

Emery's Elements of Medical Genetics

With STUDENT CONSULT Online Access

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.

Audience

Medical students taking a human genetics course; students in nursing, health professions, pre-med/undergrad programs who need to learn genetics.

Paperback, 464 Pages

Published: March 2011

Imprint: Churchill Livingstone

ISBN: 978-0-7020-4043-6

Contents

  • 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

    xi

    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

    Spinal Muscular Atrophy 306

    Duchenne Muscular Dystrophy 307

    Prospects for Treatment 308

    Hemophilia 309

    20 Screening for Genetic Disease 313

    Screening Those at High Risk 313

    Carrier Testing for Autosomal Recessive and X-Linked

    Disorders 313

    Contents xiii

    Presymptomatic Diagnosis of Autosomal Dominant

    Disorders 316

    Ethical Considerations in Carrier Detection

    and Predictive Testing 317

    Population Screening 318

    Criteria for a Screening Program 318

    Neonatal Screening 319

    Population Carrier Screening 321

    Genetic Registers 322

    21 Prenatal Testing and Reproductive

    Genetics 325

    Techniques Used in Prenatal Diagnosis 325

    Prenatal Screening 328

    Indications for Prenatal Diagnosis 331

    Special Problems in Prenatal Diagnosis 333

    Termination of Pregnancy 335

    Preimplantation Genetic Diagnosis 335

    Assisted Conception and Implications

    for Genetic Disease 336

    Non-Invasive Prenatal Diagnosis 337

    Prenatal Treatment 338

    22 Risk Calculation 339

    Probability Theory 339

    Autosomal Dominant Inheritance 340

    Autosomal Recessive Inheritance 342

    Sex-Linked Recessive Inheritance 343

    The Use of Linked Markers 345

    Bayes’ Theorem and Prenatal Screening 345

    Empiric Risks 346

    23 Treatment of Genetic Disease 349

    Conventional Approaches to Treatment

    of Genetic Disease 349

    Therapeutic Applications of Recombinant DNA

    Technology 350

    Gene Therapy 350

    RNA Modification 354

    Targeted Gene Correction 355

    Stem Cell Therapy 356

    24 Ethical and Legal Issues in Medical

    Genetics 361

    General Principles 361

    Ethical Dilemmas in the Genetic Clinic 363

    Ethical Dilemmas and

    the Public Interest 366

    Conclusion 370

    APPENDIX: Websites and Clinical Databases 372

    Glossary 374

    Multiple-Choice Questions 389

    Case-Based Questions 400

    Multiple-Choice Answers 405

    Case-Based Answers 418

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