Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.
PART 1: THE BASICS OF DNA, CHROMOSOMES, CELLS, AND DEVELOPMENT 1. Nucleic Acid Structure and Gene Expression 2. Chromosome Structure and Function 3. Genes in Pedigrees and Populations 4. Cells and Cell-Cell Communication 5. Principles of Development PART 2: ANALYZING THE STRUCTURE AND EXPRESSION OF GENES AND GENOMES 6. Amplifying DNA: Cell-based DNA Cloning and PCR 7. Nucleic Acid Hybridization: Principles and Applications 8. Analyzing the Structure and Expression of Genes and Genomes PART 3: INVESTIGATING THE HUMAN GENOME AND ITS RELATIONSHIP TO OTHER GENOMES 9. Organization of the Human Genome 10. Model Organisms, Comparative Genomics and Evolution 11. Human Gene Expression 12. Studying Gene Function in the Post-Genome Era PART 4: HUMAN GENETIC VARIATION AND DISEASES 13. Human Genetic Variability and its Consequences 14. Genetic Mapping of Mendelian Characters 15. Mapping Genes Conferring Susceptibility to Complex Disease 16. Identifying Human Disease Genes and Susceptibility Factors 17. Cancer Genetics PART 5: APPLIED HUMAN MOLECULAR GENETICS 18. Genetic Testing of Individuals 19. Pharmacogenetics, Personalized Medicine, and Population Screening 20. Genetic Manipulation of Animals for Modeling Disease and Investigating Gene Function 21. Genetic Approaches to Treating Disease Glossary Index