Thompson & Thompson Genetics in Medicine by Nussbaum, Robert -- Read -- Imperial Library of Trantor

Index

Title page Table of Contents Copyright Preface Acknowledgments Chapter 1 Introduction

The Birth and Development of Genetics and Genomics Genetics and Genomics in Medicine Onward General References

Chapter 2 Introduction to the Human Genome

The Human Genome and the Chromosomal Basis of Heredity Variation in the Human Genome Transmission of the Genome Human Gametogenesis and Fertilization Medical Relevance of Mitosis and Meiosis General References References for Specific Topics Problems

Chapter 3 The Human Genome: Gene Structure and Function

Information Content of the Human Genome The Central Dogma: DNA → RNA → Protein Gene Organization and Structure Fundamentals of Gene Expression Gene Expression in Action Epigenetic and Epigenomic Aspects of Gene Expression Gene Expression as the Integration of Genomic and Epigenomic Signals Allelic Imbalance in Gene Expression Variation in Gene Expression and Its Relevance to Medicine General References References for Specific Topics Problems

Chapter 4 Human Genetic Diversity: Mutation and Polymorphism

The Nature of Genetic Variation Inherited Variation and Polymorphism in DNA The Origin and Frequency of Different Types of Mutations Types of Mutations and Their Consequences Variation in Individual Genomes Impact of Mutation and Polymorphism General References References for Specific Topics Problems

Chapter 5 Principles of Clinical Cytogenetics and Genome Analysis

Introduction to Cytogenetics and Genome Analysis Chromosome Abnormalities Chromosome and Genome Analysis in Cancer General References References for Specific Topics Problems

Chapter 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes

Mechanisms of Abnormalities Aneuploidy Uniparental Disomy Genomic Disorders: Microdeletion and Duplication Syndromes Idiopathic Chromosome Abnormalities Segregation of Familial Abnormalities Disorders Associated with Genomic Imprinting The Sex Chromosomes and Their Abnormalities Disorders of Sex Development Neurodevelopmental Disorders and Intellectual Disability General References References for Specific Topics Problems

Chapter 7 Patterns of Single-Gene Inheritance

Overview and Concepts Pedigrees Mendelian Inheritance Autosomal Patterns of Mendelian Inheritance X-Linked Inheritance Pseudoautosomal Inheritance Mosaicism Parent-of-Origin Effects on Inheritance Patterns Dynamic Mutations: Unstable Repeat Expansions Maternal Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome Correlating Genotype and Phenotype Importance of the Family History in Medical Practice General References Problems

Chapter 8 Complex Inheritance of Common Multifactorial Disorders

Qualitative and Quantitative Traits Familial Aggregation and Correlation Determining the Relative Contributions of Genes and Environment to Complex Disease Examples of Common Multifactorial Diseases with a Genetic Contribution Examples of Multifactorial Traits for Which Specific Genetic and Environmental Factors are Known The Challenge of Multifactorial Disease with Complex Inheritance General References References for Specific Topics Problems

Chapter 9 Genetic Variation in Populations

Genotypes and Phenotypes in Populations Factors That Disturb Hardy-Weinberg Equilibrium Ethnic Differences in the Frequency of Various Genetic Diseases Genetics and Ancestry General References References for Specific Topics Problems

Chapter 10 Identifying the Genetic Basis for Human Disease

Genetic Basis for Linkage Analysis and Association Mapping Human Disease Genes From Gene Mapping to Gene Identification Finding Genes Responsible for Disease by Genome Sequencing General References References for Specific Topics Problems

Chapter 11 The Molecular Basis of Genetic Disease: General Principles and Lessons from the Hemoglobinopathies

The Effect of Mutation on Protein Function How Mutations Disrupt the Formation of Biologically Normal Proteins The Relationship between Genotype and Phenotype in Genetic Disease The Hemoglobins The Hemoglobinopathies General References References for Specific Topics Problems

Chapter 12 The Molecular, Biochemical, and Cellular Basis of Genetic Disease

Diseases Due to Mutations in Different Classes of Proteins Diseases Involving Enzymes Defects in Receptor Proteins Transport Defects Disorders of Structural Proteins Neurodegenerative Disorders Concluding Comments General References References to Specific Topics Useful Websites Problems

Chapter 13 The Treatment of Genetic Disease

The Current State of Treatment of Genetic Disease Special Considerations in Treating Genetic Disease Treatment by the Manipulation of Metabolism Treatment to Increase the Function of the Affected Gene or Protein Gene Therapy Precision Medicine: the Present and Future of the Treatment of Mendelian Disease General References References for Specific Topics Useful Websites Problems

Chapter 14 Developmental Genetics and Birth Defects

Developmental Biology in Medicine Introduction to Developmental Biology Genes and Environment in Development Basic Concepts of Developmental Biology Cellular and Molecular Mechanisms in Development Interaction of Developmental Mechanisms in Embryogenesis Concluding Comments General References References Specific to Particular Topics Problems

Chapter 15 Cancer Genetics and Genomics

Neoplasia Genetic Basis of Cancer Cancer in Families Familial Occurrence of Cancer Sporadic Cancer Cytogenetic Changes in Cancer Applying Genomics to Individualize Cancer Therapy Cancer and the Environment General References Specific References Useful Websites Problems

Chapter 16 Risk Assessment and Genetic Counseling

Family History in Risk Assessment Genetic Counseling in Clinical Practice Determining Recurrence Risks Empirical Recurrence Risks Molecular and Genome-Based Diagnostics General References References for Specific Topics Problems

Chapter 17 Prenatal Diagnosis and Screening

Methods of Prenatal Diagnosis Indications for Prenatal Diagnosis by Invasive Testing Prenatal Screening Laboratory Studies Genetic Counseling for Prenatal Diagnosis and Screening General References Specific References Problems

Chapter 18 Application of Genomics to Medicine and Personalized Health Care

Genetic Screening in Populations Pharmacogenomics Pharmacogenomics as a Complex Trait Screening for Genetic Susceptibility to Disease Personalized Genomic Medicine General References References for Specific Topics Problems

Chapter 19 Ethical and Social Issues in Genetics and Genomics

Principles of Biomedical Ethics Ethical Dilemmas Arising in Medical Genetics Privacy of Genetic Information Eugenic and Dysgenic Effects of Medical Genetics Genetics in Medicine General References References for Specific Topics Problems

Clinical Case Studies Illustrating Genetic Principles

Case 1. Abacavir-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (Genetically Determined Immunological Adverse Drug Reaction) Case 2. Achondroplasia (FGFR3 Mutation, MIM 100800) Case 3. Age-Related Macular Degeneration (Complement Factor H Variants, MIM 603075) Case 4. Alzheimer Disease (Cerebral Neuronal Dysfunction and Death, MIM 104300) Case 5. Autism/16p11.2 Deletion Syndrome (Susceptibility to Autism Spectrum Disorders, MIM 611913) Case 6. Beckwith-Wiedemann Syndrome (Uniparental Disomy and Imprinting Defect, MIM 130650) Case 7. Hereditary Breast and Ovarian Cancer (BRCA1 and BRCA2 Mutations) Case 8. Charcot-Marie-Tooth Disease Type 1a (PMP22 Mutation or Duplication, MIM 118220) Case 9. Charge Syndrome (CHD7 Mutation, MIM 214800) Case 10. Chronic Myelogenous Leukemia (BCR-ABL1 Oncogene) Case 11. Crohn Disease (Increased Risk from NOD2 Mutations) Case 12. Cystic Fibrosis (CFTR Mutation, MIM 219700) Case 13. Deafness (Nonsyndromic) (GJB2 Mutation, MIM 220290) Case 14. Duchenne Muscular Dystrophy (Dystrophin [DMD] Mutation, MIM 310200) Case 15. Familial Adenomatous Polyposis (APC Mutation, MIM 175100) Case 16. Familial Hypercholesterolemia (Low-Density Lipoprotein Receptor [LDLR] Mutation, MIM 143890) Case 17. Fragile X Syndrome (FMR1 Mutation, MIM 300624) Case 18. Type I (Non-Neuronopathic) Gaucher Disease (GBA1 Mutation, MIM 230800) Case 19. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Mutation, MIM 305900) Case 20. Hereditary Hemochromatosis (HFE Mutation, MIM 235200) Case 21. Hemophilia (F8 or F9 Mutation, MIM 307600 and MIM 306900) Case 22. Hirschsprung Disease (Neurocristopathy, MIM 142623) Case 23. Holoprosencephaly (Nonsyndromic Form) (Sonic Hedgehog (SHH) Mutation, MIM 236100) Case 24. Huntington Disease (HD Mutation, MIM 143100) Case 25. Hypertrophic Cardiomyopathy (Cardiac Sarcomere Gene Mutations, MIM 192600) Case 26. Insulin-Dependent (Type 1) Diabetes Mellitus (Autoimmune Destruction of Islet β Cells, MIM 222100) Case 27. Intrauterine Growth Restriction (Abnormal Fetal Karyotype) Case 28. Long QT Syndrome (Cardiac Ion Channel Gene Mutations; MIM 192500) Case 29. Lynch Syndrome (DNA Mismatch Repair Gene Mutations, MIM 120435) Case 30. Marfan Syndrome (FBN1 Mutation, MIM 154700) Case 31. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (ACADM Mutation, MIM 201450) Case 32. Miller-Dieker Syndrome (17p13.3 Heterozygous Deletion, MIM 247200) Case 33. Myoclonic Epilepsy with Ragged-Red Fibers (Mitochondrial tRNAlys Mutation, MIM 545000) Case 34. Neurofibromatosis 1 (NF1 Mutation, MIM 162200) Case 35. Non–Insulin-Dependent (Type 2) Diabetes Mellitus (Insulin Deficiency and Resistance, MIM 125853) Case 36. Ornithine Transcarbamylase Deficiency (OTC Mutation, MIM 311250) Case 37. Polycystic Kidney Disease (PKD1 and PKD2 Mutations, MIM 173900 and MIM 613095) Case 38. Prader-Willi Syndrome (Absence of Paternally Derived 15q11-q13, MIM 176270) Case 39. Retinoblastoma (RB1 Mutation, MIM 180200) Case 40. Rett Syndrome (Mepc2 Mutations, MIM 312750) Case 41. Sex Development Disorder (46,XX Male) (SRY Translocation, MIM 400045) Case 42. Sickle Cell Disease (β-Globin Glu6Val Mutation, MIM 603903) Case 43. Tay-Sachs Disease (HEXA Mutation, MIM 272800) Case 44. Thalassemia (α- or β-Globin Deficiency, MIM 141800 and MIM 613985) Case 45. Thiopurine S-Methyltransferase Deficiency (TPMT Polymorphisms, MIM 610460) Case 46. Thrombophilia (FV and PROC Mutations, MIM 188055 and MIM 176860) Case 47. Turner Syndrome (Female Monosomy X) Case 48. Xeroderma Pigmentosum (Defect of Nucleotide Excision Repair)

Glossary Sources and Acknowledgments

Chapter 2 Chapter 3 Chapter 5 Chapter 6 Chapter 7 Chapter 8 Chapter 9 Chapter 10 Chapter 11 Chapter 12 Chapter 13 Chapter 14 Chapter 15 Chapter 17 Chapter 18 Case Studies

Answers to Problems

Chapter 2 Introduction to the Human Genome Chapter 3 The Human Genome: Gene Structure and Function Chapter 4 Human Genetic Diversity: Mutation and Polymorphism Chapter 5 Principles of Clinical Cytogenetics and Genome Analysis Chapter 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and the Sex Chromosomes Chapter 7 Patterns of Single-Gene Inheritance Chapter 8 Complex Inheritance of Common Multifactorial Disorders Chapter 9 Genetic Variation in Populations Chapter 10 Identifying the Genetic Basis for Human Disease Chapter 11 The Molecular Basis of Genetic Disease Chapter 12 The Molecular, Biochemical, and Cellular Basis of Genetic Disease Chapter 13 The Treatment of Genetic Disease Chapter 14 Developmental Genetics and Birth Defects Chapter 15 Cancer Genetics and Genomics Chapter 16 Risk Assessment and Genetic Counseling Chapter 17 Prenatal Diagnosis and Screening Chapter 18 Application of Genomics to Medicine and Personalized Health Care Chapter 19 Ethical and Social Issues in Genetics and Genomics

Index

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