Essential Medical Genetics

This is an extensively revised edition of a book written to meet the needs of medical and dental undergraduates for a comprehensive yet inexpensive account of basic principles and clinical applications of modern medical genetics. It will also be of value to postgraduates who qualified prior to the advent of formal medical genetics tuition. Since the first edition, the number of cloned human genes has doubled with a commensurate increase in the diagnostic applications of recombinant DNA technology, most notably for cystic fibrosis and forms of muscular dystrophy, and these developments are fully covered. The section on molecular genetics has merited especial attention and over 100 figures have been added or replaced. The text is divided into preclinical and clinical sections. The growth and knowledge about the mechanisms of heredity in health and disease has been dramatic and increasingly prevention and treatment of genetic diseases is now possible. This is reflected by the development of medical genetics from a pure academic discipline into a clinical specialty.
Human, rather than animal examples of disease, have been chosen to illustrate basic principles, and have sought to emphasize practical ways in which these principles can be applied in medical practice, basing what is taught on everyday experience in the clinics and laboratories. Where necessary references to specialized texts are made so that the reader may find more extensive coverage of areas of particular interest. Despite the recent rapid advances, there are many areas of genetics which are ill-understood. These recent advances are included, as are areas which require further research.