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.
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.
Preface This book describes problems and results of research in the gap between two fields: Human genetics, and clinical neurophysiology. Whenever I talked about my research on the genetics of the EEG, the answer of human geneticists was: "Very interesting, but I do not understand anything about the EEG. " On the other hand, EEG specialists usually remark: "Very interesting, but I do not understand anything about human genetics. " This is why I wrote this book. It tries to summarize results my own and from some others - and to point to problems. In the from researc- light of the recent progress especially in human molecular genetics, this field of research promises deep insights into biological mechanisms of brain function, as well as genetic variation involved in mental performance, and personality of humans. However, the logistic problems of such studies are not easy to overcome: It is necessary to study carefully ascertained population samples either of "normal" persons, or of persons selected for phenotypic characteristics that are not easy to diagnose. Moreover, EEG diagnosis and classification must be very specific, and is not trivial at all. All these problems require careful preparations at various levels, long-lasting efforts, and patience. Of this I am sure, however: The results would justify the efforts. I am too old to plan such a program myself; moreover, as an emeritus professor, I do not have the means for such studies.
Provides information on the molecular basis of human genetics and outlines the principles of other epigenetic processes which together create the phenotype of a human being. This work also discusses the molecular basis for the concepts, methods and results in fields such as population genetics.
An ounce of prevention is worth a pound of cure" In medicine the truth of this statement is so self-evident that it is simply taken for granted; and yet it has become mere lip-service for many a doctor, since his work is almost exclusively concerned with the treatment of those who are already ill. This applies not only to the treatment of patients but even more to that of entire families. Many doctors are as yet unaware that the appearance of serious, sometimes fatal diseases can be avoided by preventing the concep tion of sick human beings. Our knowledge of genetics permits the relatively accurate prediction, based on statistical probability, of the recurrence of genetic defects (anomalies) and diseases within families. Our patients are frequently aware that such predictions are pos sible. In an effort to prevent the birth of defective children they try to inform themselves. However, in the practice of the individual doctor this sort of inquiry does not occur with such frequency that he is forced to concern himself systematically with these problems.
This volume contains all the invited papers, symposium contributions and workshop reports of the 7th International Congress of Human Genetics, held in West Berlin from September 22 to 26, 1986. The organizers of this congress made sure to gain the cooperation of the leading scientists in the field from all over the world. These contributions therefore document the enormous progress made in human genetics research in recent years. The volume covers a wide range of topics, from analysis of the human genome to basic mechanisms, diagnosis and therapy of hereditary diseases, and to distribution of normal and pathological genes and DNA variation in human populations. Ethical issues raised by modern developments are discussed thoroughly. The volume is a must for all scientists and medical doctors working in human genetics research, its teaching and practical applications.
This third edition of Genetic Counseling has been thoroughly revised to reflect current practice. In particular, the chapter on prenatal diagnosis (Chapter 10) has been largely rewritten and considerably expanded, reflecting the rapid develop ment in this field and its increasing medical importance. This chapter provides a detailed description of the alpha-fetoprotein test and a brief description of ultrasonography for the diagnosis of morphologic defects. Further, we discuss fetoscopy and the sampling of fetal blood with the aid of a fetoscope. In this as in past editions, these descriptions are not meant as working instructions for actual practice, but rather as background for the general practitioner who is dealing with the problems of genetic counseling. We have added a chapter (Chapter 7) on the use of conditional probability (Bayes Principle) for the calculation of more exact specific risk figures. It is true that the daily practice of medicine sees far fewer situations in which these methods can reasonably be applied than some theoreticians like to think. However, the usefulness of these methods has recently increased, especially in cases of X-chromosomal recessive diseases where the termination of a preg nancy, if the fetus has been ascertained to be male and if the mother is "most probably" heterozygous, has become more commonplace. With such a trend, the degree of probability must be determined as exactly as possible.
Biotechnology is one of the most promising fields of technology, especially since molecular biology methods have enhanced our knowledge of genes, their structure, and their action. This knowledge makes it possible to change genetic material and construct new varieties of cultural plants and animals for various purposes such as nutrition, scientific and medical experimentation, and treatment of human diseases. Such inventions may even include human genes. The understandable desire to have legal protection in this domain has created new problems - especially from the viewpoint of the law and acquiring patents for these new inventions. These problems are under wide discussion and are often controversial. This volume provides a unique overview of the current problems and opinions in this controversial field.
The combination of biological elements with electronics is of great interest for many research areas. Inspired by biological signal processes, scientists and engineers are exploring ways of manipulating, assembling, and applying biomolecules and cells on integrated circuits, joining biology with electronic devices. The overall goal is to create bioelectronic devices for biosensing, drug discovery, and curing diseases, but also to build new electronic systems based on biologically inspired concepts. This research area called bioelectronics requires a broad interdisciplinary and transdisciplinary approach to biology and material science. Even though at the frontier of life science and material science, bioelectronics has achieved in the last years many objectives of scientific and industrial relevance, including aspects of electronics and biotechnology. Although the first steps in this field combined biological and electronic units for sensor applications (e. g. , glucose oxidase on an oxygen electrode), we see now many applications in the fields of genomics, proteomics, and celomics as well as electronics. This approach challenges both the researcher and the student to learn and think outside of their zones of comfort and training. Today, one can fabricate electrically active structures that are commensurate in size with biomolecules. The advancement of nanotechnology has influenced bioelectronics to a large extent.
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