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.

Ch. 1 Nucleic Acid Structure and Gene Expression 1 Ch. 2 Chromosome Structure and Function 29 Ch. 3 Genes in Pedigrees and Populations 61 Ch. 4 Cells and Cell-Cell Communication 91 Ch. 5 Principles of Development 133 Ch. 6 Amplifying DNA: Cell-based DNA Cloning and PCR 163 Ch. 7 Nucleic Acid Hybridization: Principles and Applications 191 Ch. 8 Analyzing the Structure and Expression of Genes and Genomes 213 Ch. 9 Organization of the Human Genome 255 Ch. 10 Model Organisms, Comparative Genomics, and Evolution 297 Ch. 11 Human Gene Expression 345 Ch. 12 Studying Gene Function in the Post-Genome Era 381 Ch. 13 Human Genetic Variability and Its Consequences 405 Ch. 14 Genetic Mapping of Mendelian Characters 441 Ch. 15 Mapping Genes Conferring Susceptibility to Complex Diseases 467 Ch. 16 Identifying Human Disease Genes and Susceptibility Factors 497 Ch. 17 Cancer Genetics 537 Ch. 18 Genetic Testing of Individuals 569 Ch. 19 Pharmacogenetics, Personalized Medicine, and Population Screening 605 Ch. 20 Genetic Manipulation of Animals for Modeling Disease and Investigating Gene Function 639 Ch. 21 Genetic Approaches to Treating Disease 677 Glossary 719 Index 737