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Human Hemoglobin Genetics

Human Hemoglobin Genetics

Book Reviews g3?S population in which the conditions usually occur, a brief description of the phenotypes, and references. This appendix should serve...

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Book Reviews

g3?S population in which the conditions usually occur, a brief description of the phenotypes, and references. This appendix should serve as a valuable reference source for hematologists, geneticists, and other physicians and nurses who care for patients with hemoglobin disorders. Therefore, this book should be valuable to a wide range of readers. Clinicians and scientists will benefit from this remarkably current description of human hemoglobin and hemoglobinopathies. Those who wish to become familiar with the techniques and concepts of human molecular genetics (which also are applicable to other human conditions) and those who would like a handy reference text for the myriad of human globin mutations will appreciate this book.

Human Hemoglobin Genetics, by George R. Honig and Junius G. Adams III, 452 pp, with illus, $59, New York, Springer-Verlag, 1986

The human hemoglobin system is unique in the degree of information that exists about the globin genes and their regulation, the amino acid sequences of the gene products, and the influence that individual amino acids exert on the function of the hemoglobin molecule. In addition, hundreds of mutations have been characterized. For many of these mutations, as for sickle /3-globin, the clinical phenotype is understood in terms of the effects of the molecular changes. This superb book describes this fascinating system, beginning with the form and function of hemoglobin, going back to the level of the gene and its mutations, and then proceeding forward again to the altered molecules Virginia V. Michels, M.D. that result in human diseases. Department of Medical Genetics The introduction includes an overview and a historical foundation that may be difficult to understand for the reader who is not conversant in molecular genetics. Lest this first chapter discourage readers from continuing, some may wish Goldberg's Genetic and Metabolic Eye Disease, 2nd ed, edited by William Andrew Renie, to go directly to chapter 2, "The Human Hemo574 pp, with illus, $85, Boston, Little, Brown globins." This material and the subsequent text and Company, 1986 are clear and concise and include well-designed tables and illustrations. Those who need a review The eye and some diseases affecting it have of how DNA is structured or functions, or who played an important role in the history and develnever understood the techniques of molecular opment of genetics, dating back to the observacloning or creation of cDNA probes, will find tions on color blindness by Dalton in 1798. Ten excellent explanations that are relevant not only years ago, Morton F. Goldberg edited the first to hemoglobin but to all human genetics. Introns, edition of what is now rightly called Goldberg's exons, flanking regions, transcription, transla- Genetic and Metabolic Eye Disease. This book tion, and regulation are all discussed. A substan- deserves a prominent place in every ophthalmoltial amount of the text is devoted to a- and /3-globin ogy library. This second edition includes updated cluster mutations, and their clinical phenotypes chromosomal and gene information on the 84 are briefly described. The authors do not attempt ocular diseases now chromosomally mapped as to give details of the clinical diseases or their well as descriptions of many associated synmanagement, but ample references are provided. dromes and systemic conditions well established Included, however, are sections on principles of as genetic diseases. As the current editor states in treatment, population screening, genetic counsel- the preface, the second edition tries to "present a ing, and prenatal diagnosis. Helpful tables of red vision of the future—a future that will be heavily blood cell measurements (such as the mean corshaped by the emerging recombinant DNA techpuscular volume) and hemoglobin electrophoresis nology. This future includes more sophisticated (for example, levels of hemoglobin F or A 2 ) are provided for the most common hemolytic and and frequent detection of prenatal disease and thalassemic syndromes. An 84-page appendix carrier status. Ultimately it is hoped that these lists virtually all known globin mutations, the techniques will eventually lead to gene therapy and treatment of existing genetic diseases." Mayo Clin Proc 61:838, 1986