Emery's Elements of Medical Genetics and Genomic-16판

Cover image
Title page
Table of Contents
Copyright
Preface
Acknowledgments
Dedication

1. The History and Impact of Genetics in Medicine
Abstract
Gregor Mendel and the Laws of Inheritance
DNA as the Basis of Inheritance
The Fruit Fly
The Origins of Medical Genetics
Major New Developments
The Societal Impact of Advances in Genetics
Databases
Further Reading
Section A: The Scientific Basis of Human Genetics

2. The Cellular and Molecular Basis of Inheritance
Abstract
The Cell
DNA: The Hereditary Material
Chromosome Structure
Types of DNA Sequence
Transcription
Translation
The Genetic Code
Regulation of Gene Expression
RNA-Directed DNA Synthesis
Mutations
Mutations and Mutagenesis
Further Reading

3. Chromosomes and Cell Division
Abstract
Human Chromosomes
Methods of Chromosome Analysis
Molecular Cytogenetics
Chromosome Nomenclature
Cell Division
Gametogenesis
Chromosome Abnormalities
Further Reading

4. Finding the Cause of Monogenic Disorders by Identifying Disease Genes
Position-Independent Identification of Human Disease Genes
Positional Cloning
The Human Genome Project
Identifying the Genetic Etiology of Monogenic Disorders by Next-Generation Sequencing
Further Reading

5. Laboratory Techniques for Diagnosis of Monogenic Disorders
Abstract
Polymerase Chain Reaction
Application of DNA Sequence Polymorphisms
Nucleic Acid Hybridization Techniques
Mutation Detection
Sequencing-Based Methods
Dosage Analysis
Genome Sequencing as a Clinical Diagnostic Test
Further Reading

6. Patterns of Inheritance
Abstract
Family Studies
Mendelian Inheritance
Multiple Alleles and Complex Traits
Anticipation
Mosaicism
Uniparental Disomy
Genomic Imprinting
Mitochondrial Inheritance
Further Reading

7. Population and Mathematical Genetics
Abstract
Allele Frequencies in Populations
Genetic Polymorphism
Segregation Analysis
Genetic Linkage
Medical and Societal Intervention
Conclusion
Further Reading

8. Risk Calculation
Abstract
Probability Theory
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-Linked Recessive Inheritance
The Use of Linked Markers
Bayes’ Theorem and Prenatal Screening
Empiric Risks
Further Reading

9. Developmental Genetics
Abstract
Fertilization and Gastrulation
Developmental Gene Families
The Pharyngeal Arches
The Role of Cilia in Developmental Abnormalities
The Limb as a Developmental Model
Developmental Genes and Cancer
Positional Effects and Developmental Genes
Hydatidiform Moles
Epigenetics and Development
Sex Determination and Disorders of Sex Development
Twinning
Further Reading
Section B: Genetics in Medicine and Genomic Medicine

10. Common Disease, Polygenic, and Multifactorial Genetics
Types and Mechanisms of Genetic Susceptibility
Approaches to Demonstrating Genetic Susceptibility to Common Diseases
Polygenic Inheritance and the Normal Distribution
Multifactorial Inheritance—the Liability/Threshold Model
Identifying Genes That Cause Multifactorial Disorders
Polygenic Risk Scores
Disease Models for Multifactorial Inheritance
Further Reading

11. Screening for Genetic Disease
Abstract
Screening Those at High Risk
Carrier Testing for Autosomal Recessive and X-Linked Disorders
Presymptomatic Diagnosis of Autosomal Dominant Disorders
Ethical Considerations in Carrier Detection and Predictive Testing
Population Screening
Criteria for a Screening Program
Prenatal and Postnatal Screening
Population Carrier Screening
Genetic Registers
Further Reading
Websites

12. Hemoglobin and the Hemoglobinopathies
Abstract
Structure of Hemoglobin
Developmental Expression of Hemoglobin
Globin Chain Structure
Synthesis and Control of Hemoglobin Expression
Disorders of Hemoglobin
Clinical Variation of the Hemoglobinopathies
Antenatal and Newborn Hemoglobinopathy Screening
Further Reading
Websites

13. Immunogenetics
Abstract
Immunity
Innate Immunity
Specific Acquired Immunity
Inherited Immunodeficiency Disorders
Blood Groups
Further Reading

14. The Genetics of Cancer…and Cancer Genetics
Abstract
Differentiation Between Genetic and Environmental Factors in Cancer
Oncogenes
Tumor Suppressor Genes
Epigenetics and Cancer
Genetics of Common Cancers
DNA Tumor Profiling, Mutational Signatures, and Tumor Mutational Burden
Inherited Cancer Syndromes
Genetic Counseling in Familial Cancer
Screening for Familial Cancer
What Treatment Is Appropriate?
Further Reading

15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
Pharmacogenomics
Drug Metabolism
Genetic Variations Revealed by the Effects of Drugs
Precision Medicine
Treatment of Genetic Disease
Therapeutic Applications of Recombinant DNA Technology
Gene Therapy
RNA Modification
Targeted Gene Correction
Stem Cell Therapy
Further Reading
Section C: Clinical Genetics, Counseling, and Ethics

16. Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability
Abstract
Incidence
Definition and Classification of Birth Defects
Genetic Causes of Malformations
Environmental Agents (Teratogens)
Malformations of Unknown Cause
Counseling
Intellectual Disability
Further Reading

17. Chromosome Disorders
Abstract
Incidence of Chromosome Abnormalities
Disorders of the Sex Chromosomes
“Classic” Chromosome Deletion Syndromes
Chromosome Microarray/Microarray-Comparative Genomic Hybridization
Chromosome Disorders and Behavioral Phenotypes
Chromosome Breakage Syndromes
Indications for Chromosome Microarray Analysis
Further Reading

18. Inborn Errors of Metabolism
Abstract
Disorders of Amino Acid and Peptide Metabolism
Disorders of Carbohydrate Metabolism
Disorders of Steroid Metabolism
Disorders of Lipid and Lipoprotein Metabolism
Lysosomal Storage Disorders
Disorders in the Metabolism of Purines, Pyrimidines, and Nucleotides
Disorders of Porphyrin and Heme Metabolism
Disorders in the Metabolism of Trace Elements and Metals
Peroxisomal Disorders
Disorders of Fatty Acid and Ketone Body Metabolism
Disorders of Energy Metabolism
Prenatal Diagnosis of Inborn Errors of Metabolism
Further Reading

19. Mainstream Monogenic Disorders
Abstract
Neurological Disorders
CADASIL and Early-Onset Dementia
Inherited Peripheral Neuropathies
Motor Neurone Disease
Neurocutaneous Disorders
Muscular Dystrophies
Respiratory Disorders
Inherited Cardiac Conditions
Connective Tissue Disorders
Renal Disorders
Blood Disorders
Further Reading

20. Prenatal Testing and Reproductive Genetics
Abstract
Techniques Used in Prenatal Diagnosis
Antenatal and Prenatal Screening
Indications for Prenatal Testing
Special Problems in Prenatal Diagnosis
Termination of Pregnancy
Preimplantation Genetic Diagnosis
Assisted Conception and Implications for Genetic Disease
Prenatal Treatment
Further Reading

21. Genetic Counseling
Abstract
Definition
Establishing the Diagnosis
Calculating and Presenting the Risk
Discussing the Options
Communication and Support
Genetic Counseling—Directive or Non-directive?
Outcomes in Genetic Counseling
Special Issues in Genetic Counseling
Further Reading

22. Ethical and Legal Issues in Medical Genetics
Abstract
General Principles
Ethical Dilemmas in the Genetics Clinic
Ethical Dilemmas and the Public Interest
Conclusion
Further Reading
Glossary
Appendix: Websites and Clinical Databases
General Genetic Websites
Human Genome Websites
Molecular Genetics Websites
Cytogenetics Websites
Educational Human Genetics Websites
Human Genetics Societies
Clinical Databases
Other Resources

Multiple-Choice Questions
CHAPTER 2: The Cellular and Molecular Basis of Inheritance
CHAPTER 3: Chromosomes and Cell Division
CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes
CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders
CHAPTER 6: Patterns of Inheritance
CHAPTER 7: Population and Mathematical Genetics
CHAPTER 8: Risk Calculation
CHAPTER 9: Developmental Genetics
CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
CHAPTER 11: Screening for Genetic Disease
CHAPTER 12: Hemoglobin and the Hemoglobinopathies
CHAPTER 13: Immunogenetics
CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
CHAPTER 17: Chromosome Disorders
CHAPTER 18: Inborn Errors of Metabolism
CHAPTER 19: Mainstream Monogenic Disorders
CHAPTER 20: Prenatal Testing and Reproductive Genetics
CHAPTER 21: Genetic Counseling
Case-Based Questions
CHAPTER 6: Patterns of Inheritance
CHAPTER 7: Population and Mathematical Genetics
CHAPTER 8: Risk Calculation
CHAPTER 9: Developmental Genetics
CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
CHAPTER 11: Screening for Genetic Disease
CHAPTER 12: Hemoglobin and the Hemoglobinopathies
CHAPTER 13: Immunogenetics
CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
CHAPTER 17: Chromosome Disorders
CHAPTER 18: Inborn Errors of Metabolism
CHAPTER 19: Mainstream Monogenic Disorders
CHAPTER 20: Prenatal Testing and Reproductive Genetics
CHAPTER 21: Genetic Counseling
Multiple-Choice Answers
CHAPTER 2: The Cellular and Molecular Basis of Inheritance
CHAPTER 3: Chromosomes and Cell Division
CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes
CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders
CHAPTER 6: Patterns of Inheritance
CHAPTER 7: Population and Mathematical Genetics
CHAPTER 8: Risk Calculation
CHAPTER 9: Developmental Genetics
CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
CHAPTER 11: Screening for Genetic Disease
CHAPTER 12: Hemoglobin and the Hemoglobinopathies
CHAPTER 13: Immunogenetics
CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
CHAPTER 17: Chromosome Disorders
CHAPTER 18: Inborn Errors of Metabolism
CHAPTER 19: Mainstream Monogenic Disorders
CHAPTER 20: Prenatal Testing and Reproductive Genetics
CHAPTER 21: Genetic Counseling
Case-Based Answers and Discussion
CHAPTER 6: Patterns of Inheritance
CHAPTER 7: Population and Mathematical Genetics
CHAPTER 8: Risk Calculation
CHAPTER 9: Developmental Genetics
CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
CHAPTER 11: Screening for Genetic Disease
CHAPTER 12: Hemoglobin and the Hemoglobinopathies
CHAPTER 13: Immunogenetics
CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
CHAPTER 17: Chromosome Disorders
CHAPTER 18: Inborn Errors of Metabolism
CHAPTER 19: Mainstream Monogenic Disorders
CHAPTER 20: Prenatal Testing and Reproductive Genetics
CHAPTER 21: Genetic Counseling
Clinical Scenario Answers and Discussion
Chapter 6
Chapter 8
Chapter 9
Chapter 11
Chapter 12
Chapter 13
Chapter 14
Chapter 16
Chapter 17
Chapter 18
Chapter 19
Chapter 20
Chapter 21
Chapter 22
Index