Vogel and Motulsky's Human Genetics

Description

The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition a multi/chapter section giving an overview on the main model organisms (mouse, dog, worm, fly, fish) used in human genetics research has been introduced. This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field. Front Matter....Pages i-liii Introduction....Pages 1-12 History of Human Genetics*....Pages 13-29 Human Genome Sequence and Variation....Pages 31-53 Chromosomes....Pages 55-138 From Genes to Genomics to Proteomics....Pages 139-163 Formal Genetics of Humans: Modes of Inheritance*....Pages 165-209 Linkage Analysis for Monogenic Traits....Pages 211-241 Oligogenic Disease....Pages 243-262 Formal Genetics of Humans: Multifactorial Inheritance and Common Diseases....Pages 263-286 Lessons from the Genome-Wide Association Studies for Complex Multifactorial Disorders and Traits....Pages 287-297 Epigenetics....Pages 299-318 Human Gene Mutation: Mechanisms and Consequences....Pages 319-363 Human Hemoglobin....Pages 365-401 Human Genetics of Infectious Diseases....Pages 403-415 Gene Action: Developmental Genetics....Pages 417-450 Cancer Genetics....Pages 451-470 The Role of the Epigenome in Human Cancers....Pages 471-486 Population Genetic Principles and Human Populations....Pages 487-506 Consanguinity, Genetic Drift, and Genetic Diseases in Populations with Reduced Numbers of Founders....Pages 507-528 Human Evolution....Pages 529-555 Comparative Genomics....Pages 557-587 Genetics and Genomics of Human Population Structure....Pages 589-615 Genetic Epidemiology....Pages 617-634 Pharmacogenetics....Pages 635-647 Behavioral Genetics....Pages 649-649 The Genetics of Personality....Pages 651-661 Mental Retardation and Intellectual Disability....Pages 663-680 Genetic Factors in Alzheimer Disease and Dementia....Pages 681-697 Genetics of Autism....Pages 699-714 The Genetics of Alcoholism and Other Addictive Disorders....Pages 715-741 Behavioral Aspects of Chromosomal Variants....Pages 743-757 Geneties of Schizophrenia and Bipolar Affective Disorder....Pages 759-776 Model Organisms for Human Disorders....Pages 777-777 Mouse as a Model for Human Disease....Pages 779-785 Caenorhabditis elegans , A Simple Worm: Bridging the Gap Between Traditional and Systems-Level Biology....Pages 787-794 Drosophila as a Model for Human Disease....Pages 795-811 Human Genetics and the Canine System....Pages 813-826 Fish as a Model for Human Disease....Pages 827-843 Genetic Counseling and Prenatal Diagnosis....Pages 845-866 Gene Therapy....Pages 867-874 Cloning in Research and Treatment of Human Genetic Disease....Pages 875-883 Genetic Medicine and Global Health....Pages 885-902 Genetic Databases....Pages 903-903 Databases and Genome Browsers....Pages 905-921 Ensembl Genome Browser....Pages 923-939 Databases in Human and Medical Genetics....Pages 941-960 Back Matter....Pages 961-981