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Human Gene Mutation By David N. Cooper and Michael Krawczak (review)

Extensive libraries of monogenic mutations, detailed linkage maps and the domestication of certain prokaryotic and eukaryotic species with desirable technical advantages characterized the model species of transmission geneticists. The mouse was the model species for mammals but not in the same class as the other species. Homo sapiens was never viewed as a member of the inner circle. And then came molecular genetics! The extraordinary progress in molecular genetics, initially involving the model species, over the past fifteen years has transformed genetics and probably founded a new subdiscipline of biochemistry. Sophisticated gene manipulations are now commonplace and accomplished by kits, equipment, and technicians. Yet the raw materials of the transmission geneticists, genie mutations, remain the same as those of the transmission geneticists. Only one mammalian species has the largest number of identified monogenically determined mutations and the most detailed linkage maps: Homo sapiens. Molecular geneticists have been quick to tap federal financial resources (the human genome project) and the latest technical breakthroughs (identified by an arcane series of letters or acronyms) to publish their genie sequences in a small library of established and newly established journals. The need for a comprehensive and integrated overview has long been obvious. Cooper and Krawczak have written a welcome book which provides an overview of progress in the molecular genetics of human gene mutations. "The aim of the volume has been to put together under one cover an empirically based mechanistic analysis of the nature of human gene mutation causing genetic disease, an assessment of the consequences of mutation both at the level of gene expression and for the complex relationships between genotype and phenotype, an overview of the currently available methods for mutation detection and analysis, and a reference source to current diagnostic possibilities in a fast-moving field." Each of the thirteen chapters has comprehensive contemporary references. The information in numerous tables and four appendices are not likely to be found elsewhere. The line drawings and figures are designed to illuminate the text.