Human Biochemical Genetics

There are few areas of knowledge whose continued expansion and increasing applicability can be as confidently predicted as is the case for human biochemical genetics. A growing awareness of the importance of this field has resulted in a rapid increase in the number and quality of studies contributed from several disciplines. Under these circumstances Dr. Harris' book renders the timely service of taking stock of our present situation. It is a worthy successor to the pioneer publications of A. E. Garrod and to Dr. Harris' own summary in 1953. The first two chapters provide a framework in the form of a compact and lucid presentation of the principles and the physical basis of Mendelian heredity, ranging from cryptogenetics to the dynamic aspects of population genetics. The bulk of the text deals with heritable biochemical defects of amino acid metabolism, carbohydrate metabolism, the hemoglobins, the blood group substances and the plasma proteins. Genetic abberations in porphyrin metabolism, and a number of miscellaneous conditions, are treated in a separate chapter. A final chapter on the problem of gene action is most provocative and stimulating. The instances which Dr. Harris has chosen to detail, although greater in number than in his Introduction to Human Biochemical Genetics (1953), have been selected with the same discrimination. As a result, the book is a showcase of important conditions that have been extensively studied and well documented. In the aggregate they convey a picture of the status of the field today. Each instance has been treated in breadth. The clinical, chemical, and genetic aspects are expertly introduced. In addition to the usual discussions of modes of transmission, the text contains pertinent information concerning geographic distribution, incidence, and mutation rate. The references which supplement the text are both extensive and excellent. Dr. Harris has produced an authoritative and clearly written summary which will command the attention and the gratitude of the clinician, the biochemist, and the geneticist. This book entitled Stress and Cellular Function has the laudable purpose of correlating disease with specific defects in cellular metabolism. Unfortunately , only one of the sixteen chapters concerns itself with cell physiology and this one is largely restricted to a discussion of the diffusion of ions across the membranes of various cell organelles. The next few chapters extend the ion discussion to the pulmonary and renal organ systems and correlate the movements of hydrogen ions with altered metabolic states. The …