Color Atlas of Genetics

Description

Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology. Cover......Page 1 At a Glance......Page 3 Title......Page 5 Copyright......Page 6 Preface......Page 7 Acknowledgments......Page 9 About the Author......Page 10 Table of Contents......Page 11 Introduction......Page 15 Fundamentals......Page 39 Prologue......Page 40 Molecular Basis of Cienetlcs......Page 50 Analysis of DNA......Page 72 Variablllty of DNA......Page 86 Processing of DNA......Page 94 Eukaiyotic Cells......Page 100 Fonnal Genetics......Page 118 Chromosomes......Page 146 Regulation of Gene Function......Page 176 Epigenetic Modifications......Page 192 Genetic Signal Pathways......Page 200 Genes in Embryonic Development......Page 210 Genomics......Page 219 Genetics in Medicine......Page 249 Genetic Classification of Diseases......Page 250 Imbalanced Homeostasis......Page 274 Metabolic Disorders......Page 290 Immune System......Page 310 Origins of Cancer......Page 326 Impaired Cell and Tissue Structure......Page 348 Hemoglobin Disorders......Page 364 Sex Determination and Differentiation......Page 376 Sensory Perception......Page 384 Chromosomal Aberntions......Page 396 A Brief Guide to Genetic Diagnosis......Page 402 Chromosomal Locations-Alphabetical List......Page 412 Appendix......Page 417 Glossary......Page 435 Index......Page 461