Icrf Handbook of Genome Analysis, 2 Vols.

N S Spurr, S Bryant, B D Young

The combined power of genetic analysis and recombinant DNA technology to analyse entire genomes has moved biomedical research into a new and revolutionary phase. The complete sequencing and mapping of the human genome, as well as the genomes of other model organisms, will be the basis for our future understanding of human disease, and will allow us to answer fundamental questions about development and evolution. The new ICRF Handbook of Genome Analysis is the essential guide to the enormous range of techniques available to the researcher for both the genetic and physical mapping of the genome, as well as the sequencing and analysis of DNA. It is both a protocol manual and a comprehensive information resource. Written by international experts, each chapter presents a state-of-the-art review of a methodology. Methods are fully described and evaluated; their advantages and disadvantages discussed; and their suitabilkity for different investigations considered. Step by step protocols, including computer analyses, are given for 123 essential experimental procedures. "Troubleshooting" sections discuss possible reasons for failure - and offer remedies. The primary focus is on human genetics, and on the benefits of an understanding of the genome for the diagnosis and treatment of human disease. The book also considers the current state of progress in the analysis of genomes of many model organisms, including plants. A major part of the work provides details on Internet resources as well as basic data on human and other genomes, including details of mapped disease genes and mouse knockouts.

Introduction; Family Studies; Complex studies; Constructing and using genetic maps; Automated map construction; Polymorphic Markers; DNA typing;

Section II: Physical mapping I: Cytogenetic analysis; Introduction; Conventional cytogenetics; Solid tumor cytogenetics; In situ hybridization; Chromosome painting; Chromosome microdissection; Chromosome sorting and analysis; Digital microscopy;

Section III: Physical mapping II: Long-range mapping and gene isolation; Introduction; Somatic cell hybrid approaches to genome mapping; Long-range physical mapping; Integrating genetic and physical maps; Strategies for rapid isolation of genes from genomic DNA:cDNA techniques; Screening cDNA libraries by transient expression in mammalian cells;

Section IV: Sequencing and sequence analysis; Introduction; Sequencing strategies; Template amplification and purification; Sequencing chemistries; Electrophoresis; Sequence labelling and detection; Automation; Mutation analysis; Repeat analysis;

Section V: Other model systems; Introduction; Mouse mapping; Somatic gene therapy; Drosophila melanogaster; Caenorhabditis elegans; Saccharomyces cerevisiae; Escherichia coli; Problems in plant genome analysis; Arabidopsis thaliana;

Section VI: Internet resources; Introduction; Internet resources and how to use them; Unix survival kit; Databases and genome resource centers;

Appendices; Materials, media and solutions; Preparation of blood bottles and processing of blood samples; Commercial suppliers; Other resources; Useful addresses and Internet connections; Basic data on human and other genomes; Catalogue of mapped human disease genes; Mouse gene knock-out tables; Chromosome aberrations associated with cancer; Glossary; Index