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Molecular genetics and immunoanalysis in blood coagulation. Ellis horwood series in biomedicine
Cell, Vol. 57, 517-518,
May 19, 1989, Copyright
0 1989 by Cell Press
Book Review
How Blood Clots . . . and Why It Sometimes Doesn’t Molecular Genetics and lmmunoanalysis in Blood Coagulation. Ellis Hotwood Series in Biomedicine. By J. C. Giddings. New York: VCH Publishers. (1988). 304 pp. $126.00. The virtual explosion of information and insight into our understanding of the molecular basis of blood coagulation has relied heavily on “experiments of nature? The identification of the components of blood coagulation and hemostasis, including the plasma proteins and the cell receptors on platelets, and our understanding of their physiologic functions emerged from the analyses of patients with clinically relevant bleeding or thrombotic disordes. Lane first demonstrated in 1840 that the transfusion of whole blood stopped the bleeding of a hemophiliac. One hundred years later, Patek and Taylor isolated a crude globulin fraction from normal plasma that corrected the clotting time of hemophiliac plasma. The fraction contained the protein now known as factor VIII. The biological activity of factor VIII is deficient in patients with classical hemophilia, hemophilia A. Over these past fifty years, over twenty to thirty proteins of blood coagulation and regulation have been recognized by careful study of patients with hereditary bleeding or thrombotic disorders that represent the phenotypic expression of gene defects. For the most part, these proteins have been isolated and characterized, their cDNA and genes cloned, and, in some cases, the proteins expressed in heterologous cells. As new information has evolved to define the structure and function of these proteins, new diagnostic and therapeutic approaches to hereditary disorders of blood coagulation have evolved based upon this information. The treatment of hemophilia A with plasma, with cryoprecipitate, with intermediate-purity concentrate, and most recently with recombinant factor VIII (White et al., N. Engl. J. Med. 320, 166-170, 1989) documents the fruitful collaboration of basic science and clinical medicine to better understand the complexities of the mechanisms of blood coagulation and to further the therapies of patients afflicted with disorders of this process. In Molecular Genetics and lmmunoanalysis in Blood Coagulation, J. C. Giddings has provided an up-to-date and detailed account of current knowledge of the molecular basis of hereditary disorders of coagulation, i.e., the “experiments of nature.” Inasmuch as the book is aimed at hematologists and clinical pathologists struggling with the vocabulary of molecular genetics, the author takes ample time in “An Introduction to the Principles of Molecular Genetics” to present the fundamental concepts of restriction enzymes, gene and oligonucleotide probes, blotting techniques, and restriction fragment length polymorphisms after a brief chapter, “Introduction of Haemostasis:’ Subsequent chapters deal with the procoagulants
(those proteins in the blood clotting cascade that participate in the generation of thrombin), von Willebrand factor (an adhesive protein that glues platelets and endothelial cells to damaged cellular surfaces), fibrinogen (the structural protein that forms the fibrin clot), factor XIII (a transglutaminase, cross-linking enzyme), the regulatory proteins (such as antithrombin Ill, protein C, protein S that control blood coagulation and localize the process to sites of tissue injury), and the proteins of the fibrinolytic mechanism (responsible for dissolving clots after the blood vessel has begun to heal). Each of these sections presents the biochemistry and molecular genetics of the relevant proteins, the phenotype of individuals with hereditary defects of these proteins, and a detailed examination of the molecular basis of the defect at both the protein and gene level, where possible. The final chapters, entitled “Laboratory Methods of lmmunoanalysis of Proteins” and “Laboratory Methods for the Analysis of DNA,” serve as an equivalent to Maniatis’s lab manual for those who would like to establish these techniques in clinical coagulation laboratories. The structure of this monograph is original in its field, and the author has thoughtfully considered the needs of his readers. The didactic section on molecular genetics is a case in point. The reviews of the genetic defects are comprehensive and informative; the tables and narrative of the case reports, family histories, and laboratory evaluations of specific hereditary disorders are extracted from a world literature far removed from the mainstream of prominent journals. For example, should one have immediate need to access the names and citations of the 149 mutant fibrinogens that have been reported, a table in the chapter on fibrinogen would prove invaluable. For the cognoscenti, this data base represents an important reference resource. For others, the detail may be overwhelming. The highlight of the book is the complete description of the molecular genetics of hemophilia A and hemophilia B. The pleomorphism of these defects and their varied impact on the phenotype remain critical to the understanding of the synthesis and structure-function relationships in these proteins. The discussion of the practical application of RFLP analyses for prenatal diagnosis and the identification of the carrier state is comprehensive and timely. The discussion of gene defects determined by direct gene analysis emphasizes the level of sophistication to which this field has evolved. However, as with any rapidly moving target, new data presented since its publication date the monograph already. Finally, the laboratory manual section of the book offers considerable assistance to the clinical coagulation laboratory. These laboratories have traditionally used coagulation based endpoint methodologies, but are gradually introducing immunochemical methods with great trepidation. Few dare genetic analyses with DNA probes. These chapters should greatly lower the activation energy necessary to modernize these clinical laboratories. This work could serve as a useful reference for those
Cell 518
entering the field of hemostasis or those of us in the field desiring a short, comprehensive perspective. It should be emphasized that this book should be considered a reference work. It is crammed with facts and citations, but there has been minimal attempt by the author to synthesize and integrate information critically. There are no new ideas or hypotheses. Overall, the monograph is instructive, albeit the narrative a little dilute, and the content didactic, although more precise citation of the primary literature would have been appreciated. There are excellent reviews of the biochemistry and molecular biology of blood coagulation published elsewhere, but the comprehensive discussion of phenotypic expression of hereditary defects and the practical laboratory manuals are unique. This book could prove a valuable reference for workers in this field, and it will command appropriate space above my desk. However, at $126 for approximately 200 pages of text and 70 pages of references, these words will surely be the most expensive on my shelf. Bruce Furie Center for Hemostasis and Thrombosis Research New England Medical Center Tufts University School of Medicine Boston, Massachusetts 02111
Books Received
Anderson, R N., Engstrom, P. F., and Mortenson, L. E., eds. (1969). Advances in Cancer Control. innovationsand Research. Progress in Clinical and Biological Research. Volume 293. Alan Ft. Liss, Inc., New York. 407 pp. $84.00. Colburn, N. tl., ed. (1989). Genes and Signal Transduction in Multistage Carcinogenesis. Marcel Dekker, Inc., New York. 462 pp. $125.00. de Vellis, J., Ciment, G., and Lauder, J., eds. (1989). Neuroembryology. Cellular and Molecular Approaches. Alan Ft. Liss, Inc.. New York. 537 pp. $120.00.
Michell, R. H., Drummond, A. H., and Downes, C. P, eds. (1989) lnositol Llpids in Cell SignaIlIng. HBJ Ltd., Kent. England. 534 pp. $49.00. Mitchell, M. S., ed. (1989). Immunity to Cancer II. Progress in ClinIcal and Biological Research. Volume 288. Alan R. Liss, Inc., New York. 520 pp. $90.00. Mizrahi A., ed. (1989). BIological Waste Treatment. Advances In Biotechnological Processes. Volume 12. Alan R. Liss, Inc., New York. 296 pp. $79.50 Norris, D. A. ed. (1989). Immune Mechanisms In Cutaneous Disease. Immunology Series. Volume46. Marcel Dekker, Inc., New York. 826 pp $165.00. Oettgen, H. F., ed. (1989). Gangliosides New York. 366 pp. $120.00.
and Cancer. VCH Publishers,
Pochedly, C., Sills, R. H., and Schwartz, A. D., eds. (1989). DISorders of the Spleen. Pathophysiology and Management. Hematology. Volume 10. Marcel Dekker, Inc., New York. 464 pp. $125.00. Rehm, H.-J., ed. (1989). Biotechnology. A Comprehensive Treatise in 8 Volumes. Volume 6B. VCH Publishers, New York. 810 pp. $298.00. Reif, A. E., and Schlesinger, M., eds. (1989). Cell Surface Antigen Thy-l. Immunology, Neurology, and Therapeutic Applications. Marcel Dekker, Inc., New York. 618 pp. $165.00. Rein, R., and Golombek, A., eds. (1989). Computer-Assisted Modeling of Receptor-Ligand Interactions. Theoretical Aspects and Applications to Drug Design. Progress in Clinical and Biological Research. Volume 289. Alan R. Liss, Inc., New York. 512 pp. $96.00. Reiter, R. J., ed. (1989). Pineal Research Reviews. Volume 7. Alan R. Liss, Inc., New York. 234 pp. $120.00. Robins, R. J., and Rhodes, hl. J. C., eds. (1989). Manipulating Secondary Metabolism in Culture. Cambridge University Press, New York. 312 pp. $49.50. Rogers, L. J., and Gallon, J. R., eds. (1989). Biochemistry of the Algae and Cyanobacteria. Proceedings of the Phytochemical Society of Europe. Oxford University Press, New York. 374 pp. $90.00. Romain, G. C., Vernant, J.-C., and Osame, M., ed. (1989). HTLV-1 and the Nervous System. Neurology and Neurobiology. Volume 51. Alan R. Liss. Inc., New York. 620 pp. $120.00. Sanders-Bush, E., ed. (1989). The Serotonin Press, Clifton, New Jersey. 388 pp. $69.50.
Receptors.
Humana
Sandler, M., Dahlsttim, A., and Belmaker, R. H., eds. (1989). Progress in Catecholamine Research. Part B: Central Aspects. Neurology and Neurobiology. Volume 428. Alan R. Liss, Inc., New York. 592 pp. $175.00.
Draznin, B., Melmed, S., and LeRoith, D., eds. (1989). Insulin Secretion. Molecular and Cellular Biology of Diabetes Mellitus. Volumes I-III. Alan R. Liss. Inc., New York. 167 pp., $53.00; 231 pp., $53.00; 168 pp., 53.00.
Sannes, t?, ed. (1988). The Histochemical and Cytochemical Localization of Proteases. Progress in Histochemistry and Cytochemistry. Volume 18, Number 1. Gustav Fischer Verlag, New York. 48 pp. $32.00.
Feo, F., Pani, P., Columbano, A., and Garcea, R., eds. (1989). Chemical Carcinogens. Models and Mechanisms. Plenum Press, New York. 679 pp. $115.00.
Semler, B. L., and Ehrenfeld, E., eds. (1989). Molecular Aspects of Picornavirus Infection and Detection. American Society for Microbiology, Washington, D.C. 320 pp. $59.00.
Kaback, H. R., Kirschner, M. W., Numa, S., Orkin, S. Ii., Rossmann, M. G., Rubin, G. M., and Varmus, H. (1989). The Harvey Lectures Series 83. 1987-88. Alan R. Liss, Inc., New York. 205 pp. $48.00.
Staskawicz, B., Ahlquist, P., and Yoder, 0.. eds. (1989). Molecular Biology of Plant-Pathogen Interactions. UCLA Symposiaon Molecular and Cellular Biology. New Series, Volume 101. Alan R. Liss, Inc., New York. 307 pp. $70.00.
Lopez-Berestein, G., and Fidler, I., eds. (1989). Liposomes In the Therapy of Infectious Diseases and Cancer. UCLA Symposia on Molecular and Cellular Biology. New Series, Volume 89. Alan R. Liss. inc., New York. 480 pp. $96.00.
Suzuki, D. T., Griffiths, A. J. F., Miller, J. H., and Lewontin, R. C. (1989). An Introduction to Genetic Analysis. Fourth Edition. W. H. Freeman & Co., New York. 764 pp. $39.95.
Malmendier, C. L., and Alaupovic, I?, eds. (1989). Eicosanoids, Apolipoproteins, Lipoprotein Particles. and Atherosclerosis. Advances in Experimental Medicine and Biology. Volume 243. Plenum Press, New York. 362 pp. $75.00.
Tam, J. F’., and Kaiser, E. T., eds. (1989). Synthettc Peptides. Approaches to Biological Problems. UCLA Symposia on Molecular and Cellular Biology. New Series, Volume 86. Alan R. Liss, Inc., New York. 347 pp. $72 00.
Metzgar, R. S., and Mitchell, M. S., eds. (1989). Human Tumor Antigens and Specific Tumor Therapy. UCLA Symposia on Molecular and Cellular Biology. New Series, Volume 99. Alan R. Liss, Inc., New York. 366 pp. $74.00.
Tavassoli, M., Zanjani, E. D., Ascensao, J. L., Abraham, N. G., and Levine, A. S., eds. (1988). Molecular Biology of Hemopoiesis. Advances in Experimental Medicine and Biology. Volume 241. Plenum Press, New York. 339 pp. $69.50.
May 19, 1989, Copyright
0 1989 by Cell Press
Book Review
How Blood Clots . . . and Why It Sometimes Doesn’t Molecular Genetics and lmmunoanalysis in Blood Coagulation. Ellis Hotwood Series in Biomedicine. By J. C. Giddings. New York: VCH Publishers. (1988). 304 pp. $126.00. The virtual explosion of information and insight into our understanding of the molecular basis of blood coagulation has relied heavily on “experiments of nature? The identification of the components of blood coagulation and hemostasis, including the plasma proteins and the cell receptors on platelets, and our understanding of their physiologic functions emerged from the analyses of patients with clinically relevant bleeding or thrombotic disordes. Lane first demonstrated in 1840 that the transfusion of whole blood stopped the bleeding of a hemophiliac. One hundred years later, Patek and Taylor isolated a crude globulin fraction from normal plasma that corrected the clotting time of hemophiliac plasma. The fraction contained the protein now known as factor VIII. The biological activity of factor VIII is deficient in patients with classical hemophilia, hemophilia A. Over these past fifty years, over twenty to thirty proteins of blood coagulation and regulation have been recognized by careful study of patients with hereditary bleeding or thrombotic disorders that represent the phenotypic expression of gene defects. For the most part, these proteins have been isolated and characterized, their cDNA and genes cloned, and, in some cases, the proteins expressed in heterologous cells. As new information has evolved to define the structure and function of these proteins, new diagnostic and therapeutic approaches to hereditary disorders of blood coagulation have evolved based upon this information. The treatment of hemophilia A with plasma, with cryoprecipitate, with intermediate-purity concentrate, and most recently with recombinant factor VIII (White et al., N. Engl. J. Med. 320, 166-170, 1989) documents the fruitful collaboration of basic science and clinical medicine to better understand the complexities of the mechanisms of blood coagulation and to further the therapies of patients afflicted with disorders of this process. In Molecular Genetics and lmmunoanalysis in Blood Coagulation, J. C. Giddings has provided an up-to-date and detailed account of current knowledge of the molecular basis of hereditary disorders of coagulation, i.e., the “experiments of nature.” Inasmuch as the book is aimed at hematologists and clinical pathologists struggling with the vocabulary of molecular genetics, the author takes ample time in “An Introduction to the Principles of Molecular Genetics” to present the fundamental concepts of restriction enzymes, gene and oligonucleotide probes, blotting techniques, and restriction fragment length polymorphisms after a brief chapter, “Introduction of Haemostasis:’ Subsequent chapters deal with the procoagulants
(those proteins in the blood clotting cascade that participate in the generation of thrombin), von Willebrand factor (an adhesive protein that glues platelets and endothelial cells to damaged cellular surfaces), fibrinogen (the structural protein that forms the fibrin clot), factor XIII (a transglutaminase, cross-linking enzyme), the regulatory proteins (such as antithrombin Ill, protein C, protein S that control blood coagulation and localize the process to sites of tissue injury), and the proteins of the fibrinolytic mechanism (responsible for dissolving clots after the blood vessel has begun to heal). Each of these sections presents the biochemistry and molecular genetics of the relevant proteins, the phenotype of individuals with hereditary defects of these proteins, and a detailed examination of the molecular basis of the defect at both the protein and gene level, where possible. The final chapters, entitled “Laboratory Methods of lmmunoanalysis of Proteins” and “Laboratory Methods for the Analysis of DNA,” serve as an equivalent to Maniatis’s lab manual for those who would like to establish these techniques in clinical coagulation laboratories. The structure of this monograph is original in its field, and the author has thoughtfully considered the needs of his readers. The didactic section on molecular genetics is a case in point. The reviews of the genetic defects are comprehensive and informative; the tables and narrative of the case reports, family histories, and laboratory evaluations of specific hereditary disorders are extracted from a world literature far removed from the mainstream of prominent journals. For example, should one have immediate need to access the names and citations of the 149 mutant fibrinogens that have been reported, a table in the chapter on fibrinogen would prove invaluable. For the cognoscenti, this data base represents an important reference resource. For others, the detail may be overwhelming. The highlight of the book is the complete description of the molecular genetics of hemophilia A and hemophilia B. The pleomorphism of these defects and their varied impact on the phenotype remain critical to the understanding of the synthesis and structure-function relationships in these proteins. The discussion of the practical application of RFLP analyses for prenatal diagnosis and the identification of the carrier state is comprehensive and timely. The discussion of gene defects determined by direct gene analysis emphasizes the level of sophistication to which this field has evolved. However, as with any rapidly moving target, new data presented since its publication date the monograph already. Finally, the laboratory manual section of the book offers considerable assistance to the clinical coagulation laboratory. These laboratories have traditionally used coagulation based endpoint methodologies, but are gradually introducing immunochemical methods with great trepidation. Few dare genetic analyses with DNA probes. These chapters should greatly lower the activation energy necessary to modernize these clinical laboratories. This work could serve as a useful reference for those
Cell 518
entering the field of hemostasis or those of us in the field desiring a short, comprehensive perspective. It should be emphasized that this book should be considered a reference work. It is crammed with facts and citations, but there has been minimal attempt by the author to synthesize and integrate information critically. There are no new ideas or hypotheses. Overall, the monograph is instructive, albeit the narrative a little dilute, and the content didactic, although more precise citation of the primary literature would have been appreciated. There are excellent reviews of the biochemistry and molecular biology of blood coagulation published elsewhere, but the comprehensive discussion of phenotypic expression of hereditary defects and the practical laboratory manuals are unique. This book could prove a valuable reference for workers in this field, and it will command appropriate space above my desk. However, at $126 for approximately 200 pages of text and 70 pages of references, these words will surely be the most expensive on my shelf. Bruce Furie Center for Hemostasis and Thrombosis Research New England Medical Center Tufts University School of Medicine Boston, Massachusetts 02111
Books Received
Anderson, R N., Engstrom, P. F., and Mortenson, L. E., eds. (1969). Advances in Cancer Control. innovationsand Research. Progress in Clinical and Biological Research. Volume 293. Alan Ft. Liss, Inc., New York. 407 pp. $84.00. Colburn, N. tl., ed. (1989). Genes and Signal Transduction in Multistage Carcinogenesis. Marcel Dekker, Inc., New York. 462 pp. $125.00. de Vellis, J., Ciment, G., and Lauder, J., eds. (1989). Neuroembryology. Cellular and Molecular Approaches. Alan Ft. Liss, Inc.. New York. 537 pp. $120.00.
Michell, R. H., Drummond, A. H., and Downes, C. P, eds. (1989) lnositol Llpids in Cell SignaIlIng. HBJ Ltd., Kent. England. 534 pp. $49.00. Mitchell, M. S., ed. (1989). Immunity to Cancer II. Progress in ClinIcal and Biological Research. Volume 288. Alan R. Liss, Inc., New York. 520 pp. $90.00. Mizrahi A., ed. (1989). BIological Waste Treatment. Advances In Biotechnological Processes. Volume 12. Alan R. Liss, Inc., New York. 296 pp. $79.50 Norris, D. A. ed. (1989). Immune Mechanisms In Cutaneous Disease. Immunology Series. Volume46. Marcel Dekker, Inc., New York. 826 pp $165.00. Oettgen, H. F., ed. (1989). Gangliosides New York. 366 pp. $120.00.
and Cancer. VCH Publishers,
Pochedly, C., Sills, R. H., and Schwartz, A. D., eds. (1989). DISorders of the Spleen. Pathophysiology and Management. Hematology. Volume 10. Marcel Dekker, Inc., New York. 464 pp. $125.00. Rehm, H.-J., ed. (1989). Biotechnology. A Comprehensive Treatise in 8 Volumes. Volume 6B. VCH Publishers, New York. 810 pp. $298.00. Reif, A. E., and Schlesinger, M., eds. (1989). Cell Surface Antigen Thy-l. Immunology, Neurology, and Therapeutic Applications. Marcel Dekker, Inc., New York. 618 pp. $165.00. Rein, R., and Golombek, A., eds. (1989). Computer-Assisted Modeling of Receptor-Ligand Interactions. Theoretical Aspects and Applications to Drug Design. Progress in Clinical and Biological Research. Volume 289. Alan R. Liss, Inc., New York. 512 pp. $96.00. Reiter, R. J., ed. (1989). Pineal Research Reviews. Volume 7. Alan R. Liss, Inc., New York. 234 pp. $120.00. Robins, R. J., and Rhodes, hl. J. C., eds. (1989). Manipulating Secondary Metabolism in Culture. Cambridge University Press, New York. 312 pp. $49.50. Rogers, L. J., and Gallon, J. R., eds. (1989). Biochemistry of the Algae and Cyanobacteria. Proceedings of the Phytochemical Society of Europe. Oxford University Press, New York. 374 pp. $90.00. Romain, G. C., Vernant, J.-C., and Osame, M., ed. (1989). HTLV-1 and the Nervous System. Neurology and Neurobiology. Volume 51. Alan R. Liss. Inc., New York. 620 pp. $120.00. Sanders-Bush, E., ed. (1989). The Serotonin Press, Clifton, New Jersey. 388 pp. $69.50.
Receptors.
Humana
Sandler, M., Dahlsttim, A., and Belmaker, R. H., eds. (1989). Progress in Catecholamine Research. Part B: Central Aspects. Neurology and Neurobiology. Volume 428. Alan R. Liss, Inc., New York. 592 pp. $175.00.
Draznin, B., Melmed, S., and LeRoith, D., eds. (1989). Insulin Secretion. Molecular and Cellular Biology of Diabetes Mellitus. Volumes I-III. Alan R. Liss. Inc., New York. 167 pp., $53.00; 231 pp., $53.00; 168 pp., 53.00.
Sannes, t?, ed. (1988). The Histochemical and Cytochemical Localization of Proteases. Progress in Histochemistry and Cytochemistry. Volume 18, Number 1. Gustav Fischer Verlag, New York. 48 pp. $32.00.
Feo, F., Pani, P., Columbano, A., and Garcea, R., eds. (1989). Chemical Carcinogens. Models and Mechanisms. Plenum Press, New York. 679 pp. $115.00.
Semler, B. L., and Ehrenfeld, E., eds. (1989). Molecular Aspects of Picornavirus Infection and Detection. American Society for Microbiology, Washington, D.C. 320 pp. $59.00.
Kaback, H. R., Kirschner, M. W., Numa, S., Orkin, S. Ii., Rossmann, M. G., Rubin, G. M., and Varmus, H. (1989). The Harvey Lectures Series 83. 1987-88. Alan R. Liss, Inc., New York. 205 pp. $48.00.
Staskawicz, B., Ahlquist, P., and Yoder, 0.. eds. (1989). Molecular Biology of Plant-Pathogen Interactions. UCLA Symposiaon Molecular and Cellular Biology. New Series, Volume 101. Alan R. Liss, Inc., New York. 307 pp. $70.00.
Lopez-Berestein, G., and Fidler, I., eds. (1989). Liposomes In the Therapy of Infectious Diseases and Cancer. UCLA Symposia on Molecular and Cellular Biology. New Series, Volume 89. Alan R. Liss. inc., New York. 480 pp. $96.00.
Suzuki, D. T., Griffiths, A. J. F., Miller, J. H., and Lewontin, R. C. (1989). An Introduction to Genetic Analysis. Fourth Edition. W. H. Freeman & Co., New York. 764 pp. $39.95.
Malmendier, C. L., and Alaupovic, I?, eds. (1989). Eicosanoids, Apolipoproteins, Lipoprotein Particles. and Atherosclerosis. Advances in Experimental Medicine and Biology. Volume 243. Plenum Press, New York. 362 pp. $75.00.
Tam, J. F’., and Kaiser, E. T., eds. (1989). Synthettc Peptides. Approaches to Biological Problems. UCLA Symposia on Molecular and Cellular Biology. New Series, Volume 86. Alan R. Liss, Inc., New York. 347 pp. $72 00.
Metzgar, R. S., and Mitchell, M. S., eds. (1989). Human Tumor Antigens and Specific Tumor Therapy. UCLA Symposia on Molecular and Cellular Biology. New Series, Volume 99. Alan R. Liss, Inc., New York. 366 pp. $74.00.
Tavassoli, M., Zanjani, E. D., Ascensao, J. L., Abraham, N. G., and Levine, A. S., eds. (1988). Molecular Biology of Hemopoiesis. Advances in Experimental Medicine and Biology. Volume 241. Plenum Press, New York. 339 pp. $69.50.