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MEDICAL WRITINGS

Human Genetics: A Problem-Based Approach

right arrow Joel Charrow, MD

15 August 1997 | Volume 127 Issue 4 | Page 335


Human Genetics: A Problem-Based Approach

Korf BR. 363 pages, Boston: Blackwell Science; 1996. $39.95. ISBN 0865423539. Order phone 800-759-6102.

Field of medicine: Human genetics.

Format: Softcover book.

Audience: Medical students and any reader familiar with basic principles of biochemistry, metabolism, and nucleic acid metabolism.

Purpose: To serve as a companion textbook for a problem-based introductory course on human genetics.

Content: This textbook is organized around specific problems and cases. Each chapter begins with a clinical case involving a specific genetic disorder. As each case is progressively disclosed, relevant topics are introduced and discussed, both in the context of the case and in a more general context. The discussions broaden to cover the usual topics in introductory genetics: Mendelian inheritance, inborn errors of metabolism, "structural" gene mutations, basic molecular genetics and gene-mapping, multifactorial inheritance, mitochondrial genetics, genetics of cancer, genes and development, and population genetics.

Highlights: The book is generously illustrated with two-color diagrams and drawings and black-and-white photographs. Many of the diagrams are original, and they supplement the text well. Each chapter contains a list of references for further reading and several review questions. The chapters also include insets with "Perspectives" written by a patient or family member of a patient about the disorder being discussed. A glossary is also included.

Limitations: This is not a compendium of genetic disorders and, unlike some texts, will not serve as a reference work on genetic diseases. However, this "limitation" makes the book more readable and focused than many others.

Context: This book takes a novel approach to presenting human genetics. It is unique in its use of cases to introduce and establish a human context for the fundamental principles of human genetics in an interesting, engaging, and readable way. Many other texts directed at the same audience attempt to serve as encyclopedias of genetic disorders as well as introductory texts; they usually fail at the former and succeed at the latter. And although there are several compendia of specific types of genetic disorders (such as congenital anomalies, chromosome abnormalities, and inborn errors of metabolism) and a few encyclopedias, none of these are suitable introductory texts.

Reviewer: Joel Charrow, MD, Northwestern University Medical School, Chicago, Illinois.


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