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0 (hodnocen0 x )

BK

Eighth edition

Philadelphia : Elsevier, [2016]

xi, 546 stran : ilustrace (převážně barevné) ; 28 cm

ISBN 978-1-4377-0696-3 (vázáno)

Terminologický slovník

Obsahuje bibliografické odkazy a rejstřík

001483138

Contents // :hapter i // Iriroduction 1 // The Birth and Development of Genetics and Genomics, 1 Genetics and Genomics in Medicine, Í // Onward, 2 // CHAPTER 2 // Introduction to the Human Genome 3 The Hitman Genome and the Chromosomal Basis of Heredity, 3 Variation in the Human Genome, 11 Transmission of the Genome, 11 Human Gametogenesis and Fertilization, 18 Medical Relevance of Mitosis and Meiosis, 20 // CHAPTER 3 // The Human Genome: // Get< Structure and Function 21 // Information Content of the Human Genome, 21 The Central Dogma: DNA —> RNA —> Protein, 22 Gene Organization and Structure, 24 Fundamentals of Gene Expression, 27 Gene Expression in Action, 29 I Epigenetic and Epigenomic // Aspects of Gene Expression, 33 Gene Expression as the Integration of Genomic and Epigenomic Signals, 35 Allelic Imbalance in Gene Expression, 36 I Variation in Gene Expression and Its Relevance to Medicine, 41 // CHAPTER 4 // Genetic Diversity: // Ifacanon and Polymorphism 43 // Tee Sature of Genetic Variation, 43 Inherited Variation and Polymorphism in DNA, 45 The Origin and Frequency of DiAerent Types of Mutations, 48 // ot Mutations and Their Consequences, 52  Variation in Individual Genomes, 54  Impact of Mutation and Polymorphism, 55 // R 5 // , of Clinical // and Genome Analysis 57 tion to // net ics and Genome Analysis, 57 hromosome Abnormalities, 64 // osome and Genome Analysis in Cancer, 73 // CHAPTER 6 // The Chromosomal and // Genomic Basis of Disease: Disorders // of the

Autosomes and Sex Chromosomes 75 Mechanisms of Abnormalities, 75 Aneuploidy, 75 Uniparental Disomy, 79 Genomic Disorders: // Microdeletion and Duplication Syndromes, 80 Idiopathic Chromosome Abnormalities, 82 Segregation of Familial Abnormalities, 83 Disorders Associated with Genomic Imprinting, 85 The Sex Chromosomes and Their Abnormalities, 87 Disorders of Sex Development, 97 Neurodevelopmental Disorders and Intellectual Disability, 102 // CHAPTER 7 // Patterns of Single-Gene Inheritance 107 Overview and Concepts, 107 Pedigrees, 108 Mendelian Inheritance, 110 Autosomal Patterns of Mendelian Inheritance, 111 X-Linked Inheritance, 118 Pseudoautosomal Inheritance, 122 Mosaicism, 123 Parent-of-Origin Effects on Inheritance Patterns, 124 Dynamic Mutations: // Unstable Repeat Expansions, 124 Maternal Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome, 128 Correlating Genotype and Phenotype, 130 Importance of the Family History in Medical Practice, 130 // CHAPTER 8 // Complex Inheritance of // Common Multifactorial Disorders 133 Qualitative and Quantitative Traits, 133 Familial Aggregation and Correlation, 135 Determining the Relative Contributions of Genes and Environment to Complex Disease, 137 Examples of Common Multifactorial Diseases with a Genetic Contribution, 141 // ix // x // CONTENTS // Examples of Multifactorial Traits for Which Specific Genetic and Environmental Factors are Known, 145 The Challenge of Multifactorial Disease with Complex Inheritance,

152 // CHAPTER 9 // Genetic Variation in Populations 155 // Genotypes and Phenotypes in Populations, 155 Factors That Disturb Hardy-Weinberg Equilibrium, 158 Ethnic Differences in the Frequency of Various Genetic Diseases, 163 Genetics and Ancestry, 166 // CHAPTER 10 // Identifying the Genetic // Basis for Human Disease 171 Genetic Basis for Linkage Analysis and Association, 171 Mapping Human Disease Genes, 178 From Gene Mapping to Gene Identification, 186 Finding Genes Responsible for Disease by Genome Sequencing, 189 // CHAPTER 11 // The Molecular Basis of Genetic Disease 195 The Effect of Mutation on Protein Function, 195 How Mutations Disrupt the Formation of Biologically Normal Proteins, 197 The Relationship Between Genotype and Phenotype in Genetic Disease, 197 The Hemoglobins, 198 The Hemoglobinopathies, 201 // CHAPTER 12 // The Molecular, Biochemical, // and Cellular Basis of Genetic Disease 215 Diseases Due to Mutations in Different Classes of Proteins, 215 Diseases Involving Enzymes, 216 Defects in Receptor Proteins, 226 Transport Defects, 230 Disorders of Structural Proteins, 233 Neurodegenerative Disorders, 242 Concluding Comments, 254 // CHAPTER 13 // The Treatment of Genetic Disease 257 The Current State of Treatment of Genetic Disease, 257 Special Considerations in Treating Genetic Disease, 259 Treatment by the // Manipulation of Metabolism, 260 Treatment to Increase the Function of the Affected Gene or Protein, 263 // Gene Therapy, 275 // Precision Medicine: The

Present and Future of the Treatment of Mendelian Disease, 280 // CHAPTER 14 // Developmental Genetics and Birth Defects 283 // (With the assistance of Anthony Wynshaw-Boris, // MD, PhD) // Developmental Biology in Medicine, 283 Introduction to Developmental Biology, 287 Genes and Environment in Development, 289 Basic Concepts of Developmental Biology, 290 Cellular and Molecular Mechanisms in Development, 300 Interaction of Developmental Mechanisms in Embryogenesis, 306 Concluding Comments, 307 // CHAPTER 15 // Cancer Genetics and Genomics 309 Neoplasia, 309 Genetic Basis of Cancer, 309 Cancer in Families, 314 Familial Occurrence of Cancer, 323 Sporadic Cancer, 325 Cytogenetic Changes in Cancer, 327 Applying Genomics to Individualize Cancer Therapy, 327 Cancer and the Environment, 330 // CHAPTER 16 // Risk Assessment and Genetic Counseling 333 Family History in Risk Assessment, 333 Genetic Counseling in Clinical Practice, 334 Determining Recurrence Risks, 336 Empirical Recurrence Risks, 342 Molecular and Genome-Based Diagnostics, 344 // CHAPTER 17 // Prenatal Diagnosis and Screening 349 Methods of Prenatal Diagnosis, 350 Indications for Prenatal Diagnosis by Invasive Testing, 355 Prenatal Screening, 356 Laboratory Studies, 361 Genetic Counseling for Prenatal Diagnosis and Screening, 365 // CHAPTER 18 // Application of Genomics to // Medicine and Personalized Health Care 369 Genetic Screening in Populations, 369 Pharmacogenomics, 372 Pharmacogenomics as a Complex Trait, 375 Screening

for Genetic Susceptibility to Disease, 375 Personalized Genomic Medicine, 380 // CONTENTS // xi // CHAPTER 19 // Ethical and Social Issues in Genetics and Genomics 383 // Principles of Biomedical Ethics, 383 Ethical Dilemmas Arising in Medical Genetics, 383 Privacy of Genetic Information, 386 Eugenic and Dysgenic Effects of Medical Genetics, 388 Genetics in Medicine, 390 // CASES // Clinical Case Studies Illustrating Genetic Principles 391 // Glossary 489 // Sources and Acknowledgments 509 Answers to Problems 515 Index 533