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Emery's Elements of Medical Genetics Elsevier eBook on VitalSource, 14th Edition
Elsevier eBook on VitalSource®

Emery's Elements of Medical Genetics Elsevier eBook on VitalSource, 14th Edition

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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.

  • 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.

  • 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.

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

Pharm

Sian Ellard, BSc, PhD, MRCPath, Consultant Clinical Molecular Geneticist, Royal Devon and Exeter Hospital
Professor of Human Molecular Genetics, Peninsula Medical School, Exeter, UK and Peter D Turnpenny, BSc, MB, ChB, FRCP, FRCPCH, Consultant Clinical Geneticist, Royal Devon and Exeter Hospital
Senior Clinical Lecturer, Peninsula Medical School, Exeter, UK

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