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

Abstract

BOOK REVIEWS Human Gene Mutation. By David N. Cooper and Michael Krawczak. Oxford: BIOS Scientific Publishers, 1993. Pp. 402. $99.00. 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. The book could provide the definitive text for an advanced course in modern human genetics—after exposure to a strong introductory course in genetics and Permission to reprint a book review printed in this section may be obtained only from the author. Perspectives in Biology and Medicine, 37, 4 ¦ Summer 1994 609 molecular genetics. At the same time, it is an excellent resource for specific examples to illustrate concepts for a course in transmission and molecular genetics . The price is likely to discourage purchase for the personal library of teachers and graduate students interested or involved in human genetics, particularly at the molecular level, but should not discourage purchase for a departmental or institutional library. E. D. Garber Department of Ecology and Evolution University of Chicago Emerging Viruses. Edited by Stephen Morse. Oxford: Oxford Univ. Press, 1993. Pp. 317. $39.95. Man has been fascinated by epidemics since biblical times. "For now I will stretch out my hand that I may smite thee and thy people with pestilence . . ." (Exodus 9). Along with this fascination have come attempts to anticipate these epidemics and to prevent them. Stephen Morse's volume on Emerging Viruses is based on a conference that deals with these concerns. Some of the original speakers at the conference, experts in varied fields, describe virus epidemics, virus detection methods, the evolution of viruses, and recommendations regarding prevention and control of emerging viruses. These topics are especially timely because of the present HIV-I threat. It comes as a surprise to realize that this topic is actually a unique focus for a book and, as Lederberg notes in his chapter, "the present examination is virtually without precedent." Amidst the plethora of books that deal with over-worked topics related to infectious disease, this insightful volume is certainly welcome. It is readable as well as scholarly. The stage for the book is well-set by Morse's perceptive chapter "Examining the origins of emerging viruses." As noted by Morse, bona fide newly emerging viruses are generally new variants of an established virus recently introduced from another species or another...