The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.

Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult diseases, and we now have a better understanding of the molecular processes involved in genetic susceptibility and diseases mechanisms. The second edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthritis, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondylarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the omplexities of these diseases. Unique clinical applications of genetics to common diseases are covered in the additional new chapters on genetic counseling, pharmacogenetics, and the genetic consequences of modern therapeutics.

The first edition of this book, published in 1979, was found useful by many stu dents and was well received by the scientific community. Since the book was first written, human genetics has undergone dramatic developments, mainly due to the introduction of new concepts and techniques from molecular biology. Con comitantly, "basic" scientists have become increasingly interested in problems of human genetics. More than 700 human genes have been mapped, genes of previ ously unsuspected complexity -such as the gene for factor VIII - have become known, and the structure of noncoding DNA sequences is being analyzed with the aim of understanding gene regulation. DNA diagnosis is being rapidly intro duced into medical genetics. All this, as well as the extensive progress in most other fields of human and medical genetics, had to be considered in the prepara tion of this second edition. The book has been extensively revised and rewritten. A substantial new section dealing with gene and chromosomal structure at the molecular level has been added. The newer knowledge of molecular genetics has been incorporated, and the conceptual and practical contribution of DNA methods (for example in the hemoglobinopathies and in some other diseases) is discussed. Many new figures and tables have been added, and some illustrative material has been replaced. We have read carefully the many friendly and sometimes flattering reviews of the first edition.

"One of the best I've ever read." —Chicago Tribune "Extraordinary power . . . Comic . . .Tragic . . . A spellbinder." —The Washington Post "Earns four stars . . . A wonderful book . . . Read it, by all means, and give it to a friend." —San Francisco Chronicle "This novel hooks the reader on the first page and does not let go." —USA Today "Pain and laughter . . . The author had the genius to allow comedy to dominate this powerful story of struggle." —The Washington Book Review Dr. Josef Bernhardt, an anesthesiologist on the faculty of medicine at the University of Iowa, has tried his whole life to shut out the events of his youth in Berlin during the 1940s, but one incident in his operating room pulls him right back… It’s 1943, and sixteen-year-old Josef has been invited to leave his family and take up residence at the Wilhelm Institute of Berlin. Half-Jewish, he is unable to attend his high school due to Nazi laws, but as a mathematical genius, he has gained access to an opportunity that will assumedly spare and support him and eight other “special cases.” Though Josef is unable to forget about the war and the unknown fate of his family for the two years the Institute offers him sanity and safety, he and the others manage to discover friendship, love, and generosity within and between each other. They work side by side, under the direction of Professor Avilov (The Chief), on genetic experiments and nuclear research—quietly attempting to sabotage the war that is funding their work. Each day for two years, Josef fears that the dreamlike opportunity he has been dropped into might shatter, and that the nightmare of the genocide and war outside will infiltrate his safe haven. Berlin Wild is based on an astonishingly true story of survival.

Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics.