Molecular Diagnosis of Genetic Diseases . Methods in Molecular Medicine Series. Edited by R. Elles (Series Editor: J. M. Walker). Totowa, NJ: Humana Press. 1996. Pp. 356. $69.50 (spiral‐bound paperback).

It is a pleasure to review this book by Professors Strachan and Read. The field of human molecular genetics has expanded rapidly and with several universities now offering BSc degrees in human genetics there is a need for advanced text-books on the subject. The book begins with a standard introduction to DNA structure, replication, transcription and translation. In the section on transcription it is nice to see a description of cis-acting elements and trans-acting factors along with chromatin formation and CpG islands. This emphasis on eukaryotic gene expression is in keeping with the human emphasis of the book. Chapter two describes chromosome structure and function, including the behaviour of chromosomes during cell division and the effect of chromosomal abnormalities, and endswith uniparental disomy. One of the most appealing aspects of this book is the way that concepts are put into context. For example, chapter 3 discusses standard pedigree analysis and then complications such as nonpenetrance, variable expression, anticipation, imprinting and mosaicism. The chapter ends with an interesting section describing the work of Francis Galton and introduces the concept of multifactorial genetics in the context of the debate between biometricians and Mendelian geneticists such as Bateson. We are then taken into the realm of experimental techniques. It is useful that there are two chapters which distinguish cell-based and PCR-based cloning. These chapters are clear and up to date, as is the whole chapter devoted to hybridization techniques – a subject which often confuses students.Chapters 7–10describegenome organisation and expression (with a very useful departure into details of gene expression, including transcription factors, alternative splicing and translational control), human multigene families and repetitive DNA, then leading on to evolutionary aspects. The summary to chapter 9 is particularly interesting, using comparative genomics to address the question of what makes us human. Chapter 10 is a good overview of the mechanisms leading to DNA mutation and instability with examples taken from the human genome. The next set of chapters describe physical and genetic mapping and, again, these chapters are very comprehensive and up to date, including a detailed description of the Human Genome Project. We are then taken through the steps involved in identifying human disease genes, the pathological effects of mutations in these genes, and then the technical and ethical aspects of genetic testing of individuals and populations. The final chapters describe somatic mutations and cancer, the analysis of complex diseases, how to study gene structure and function subsequent to gene cloning and finally, gene therapy. In summary, this book is an excellent companion to a second or third year course in human genetics or for researchers wishing to gain a background knowledge of the field. The text is clear, accurate and up to date. There is a wealth of information here that is given at an appropriate level of detail for the intended readers. Good use is made of illustrations, including figures, boxes and excellent flow diagrams. The use of Internet resources is a fitting way to impart the massive amount of information that is now available – there is no reason to duplicate information that can be retrieved easily from the World Wide Web. This is particularly relevant in the chapter on the Human genome project. The references have been chosen wisely; in most cases they represent books that students will already have and standard journals which are easily accessible. The glossary is also comprehensive and clear and includes cross-referencing to relevant in-text figures. At just under £30 this book is excellent value for money. .