Following the completion of the Human Genome Project the content and organization of the third edition of Human Molecular Genetics (HMG) has been thoroughly revised.
PART ONE (CHAPTERS 1-7) covers basic material on DNA structure and function, chromosomes, cells and development, pedigree analysis and the basic techniques used in the laboratory.
PART TWO (CHAPTERS 8-12) discusses the various genome sequencing projects and the insights they provide into the organization, expression, variation and evolution of our genome.
PART THREE (CHAPTERS 13-18) focuses on mapping, identifying and diagnosing the genetic causes of mendelian and complex diseases and cancer.
PART FOUR (CHAPTERS (19-21) looks at the wider horizons of functional genomics, proteomics, bioinformatics, animal models and therapy.
There are new chapters on cells and development and on functional genomics. The sections on complex diseases have been completely rewritten and reorganized, as has the chapter on Genome Projects. Other changes include a new section on molecular phylogenetics (Chapter 12) and the introduction of 'Ethics Boxes' to discuss some of the implications of the new knowledge. Virtually every page has been revised and updated to take account of the stunning developments of the past four years since the publication of the last edition of Human Molecular Genetics.
Abbreviations
Preface
Supplementary learning aids
Before we start - Intelligent use of the Internet
Ch. 1
DNA structure and gene expression
3
Ch. 2
Chromosome structure and function
33
Ch. 3
Cells and development
59
Ch. 4
Genes in pedigrees and populations
101
Ch. 5
Amplifying DNA: PCR and cell-based DNA cloning
121
Ch. 6
Nucleic acid hybridization: principles and applications
155
Ch. 7
Analyzing DNA and gene structure, variation and expression
181
Ch. 8
Genome projects and model organisms
207
Ch. 9
Organization of the human genome
239
Ch. 10
Human gene expression
275
Ch. 11
Instability of the human genome: mutation and DNA repair
315
Ch. 12
Our place in the tree of life
351
Ch. 13
Genetic mapping of Mendelian characters
397
Ch. 14
Identifying human disease genes
415
Ch. 15
Mapping and identifying genes conferring susceptibility to complex diseases
435
Ch. 16
Molecular pathology
461
Ch. 17
Cancer genetics
487
Ch. 18
Genetic testing in individuals and populations
509
Ch. 19
Beyond the genome project: functional genomics, proteomics and bioinformatics
539
Ch. 20
Genetic manipulation of cells and animals
575
Ch. 21
New approaches to treating disease
609
Glossary
631
Disease index
645
Index
647