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An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition

Posted on: Tuesday, 21 February 2006, 15:00 CST

By Caggana, Michele

An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition. Jack J. Pasternak. Hoboken, NJ: Wiley-Liss, John Wiley & Sons, Inc., 2005, 631 pp., $84.95, hardcover. ISBN 0-471-47426-6.

This second edition of An Introduction to Human Molecular Genetics has a format similar to its predecessor, published in 1999. Since then, much has happened in genetics, and this edition has skillfully incorporated this new knowledge. Each of the 17 chapters of this book begins with one or more quotes that provide context for the content of the chapter. In addition, there is a box entitled "From the Human Genetics Files", which gives an example or an elaboration on the chapter topic. Each chapter also contains "key terms", a "summary", and "review questions" to help the reader comprehend the main points of the chapter if he or she needs to assimilate the information quickly.

I particularly like the author's integration of molecular and clinical genetics throughout. Many similar texts seem to emphasize one aspect at the expense of the other, but this book blends the two in such a way that the reader can understand both the laboratory work and its application in the clinic. This book integrates and clarifies concepts ranging from gene expression, nucleotide structure, replication, and the molecular bases of several classes of disorders to genetic counseling challenges.

In this new edition, information in the latter portion of the book has been reorganized into new self-contained chapters (chapters 8 through 11), and other portions of the previous edition have been restructured. For example, chapter 8, "Bioinformatics: Genomics, Functional Genomics, and Proteomics", describes most of the currently available molecular databases as well as tools including arrays, serial analysis of gene expression (SAGE), and mass spectrometry. Chapter 9 gives an in-depth discussion of "Human Population Genetics", including Hardy-Weinberg equilibrium and factors affecting mutation frequencies in populations. Chapter 10 describes the "Molecular Genetics of Complex Disorders", and chapter 11 is devoted to "Imprinting and Epigenetic Modification". A chapter on genetic counseling and diagnosis, which also includes descriptions of several additional genetic diseases, has been added to the end of the book, whereas the previous edition's chapter on human gene therapy has been removed.

Another nice feature of this book is its description of specific diseases relevant to the various topics. Many genetic texts use only the classic examples to illustrate the molecular bases of diseases. Dr. Pasternak takes a more comprehensive approach, describing some disorders that get scant attention in other texts. For example, in chapter 13, "Molecular Genetics of Muscle Disorders", Duchenne muscular dystrophy is presented. In addition, limb girdle muscular dystrophy, facioscapulohumeral muscular dystrophy, and cardiomyopathy are covered.

All in all, this second edition gives an excellent overview of molecular genetics, while ably bridging the gap to medical genetics. The chapters contain a series of clear, simple schematics that complement the text, and any reader interested in learning more can consult the literature cited to find additional, more-detailed information. The book would make a worthy addition to any geneticist's library.

Michele Caggana

Wadsworth Center

Division of Genetic Disorders

Albany, NY 12201-0509

DOI: 10.1373/dinchem.2005.058982

Copyright American Association for Clinical Chemistry Feb 2006

Source: Clinical Chemistry

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