This new edition builds on the success of the first by reviewing the increased understanding of the mechanisms of gene action in humans, focusing particularly on those derived from the study of genetic diseases. It deals mainly with the fundamental aspects of gene arrangement and expression rather than mutation. As well as updating and revising material from the first edition, it covers methods of exploring gene function and contains a range of chapters on specific systems which raise issues of special interest such as imprinting or homologous genes within clusters.
Ch 1 Genotype to phenotype: interpretations of the human genome project (Sue Malcolm and Judith Goodship)Ch 2 From protein sequence to structure and function (Sylvia Nagle)Ch 3 Genes in population (Francois Cambien) Ch 4 Gene-environment interaction: lipoprotein lipase and smoking and risk of CAD and the ACE and exercise- induced left ventricular hypertrophy as examples (Steve E. Humphries, Philippa J. Talmud and Hugh Montgomery)Ch 5 Pharmacogenomics (Ann K. Daly)Ch 6 Mitochondrial genetics (P.F. Chinnery and D.M. Turnbull)Ch 7 Identification of disease susceptibility genes (modifier) in mouse models: cancer and infectious disease (Tom van Wezel, Marie Lipoldova and Peter Demant)Ch 8 The GNAS1 gene (D Bonthron)Ch 9 Genomic disorders (Susan L. Christian and David H. Ledbetter)Ch 10 Genotype to phenotype in the spinocerebellar ataxias (Paul F. Worth and Nicholas W. Wood)Ch 11 Disorders of cholesterol biosynthesis (David R. Fitzpatrick)Ch 12 Mutations in the human HOX genes (Frances R. Goodman)Ch 13 PITX2 gene in development (J. Murray and E. Semina)Ch 14 The hedgehog pathway and developmental disorders (Allan E. Bale)Ch 15 X-linked immunodeficiences (H. B. Gaspar and Christine Kinnon)Ch 16 The ubiquitin-proteasome system and genetic diseases: protein degradation gone awry (S. Russ Price and William E. Mitch)