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• 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