Friedrich Vogel – författare

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.

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.

viii From discussions with our colleagues, we know that they recognize the problems and worry about them, but simply do not have the time to thoroughly study the highly specialized genetic literature available. This book is an attempt to fill this void. We have made an effort to keep it as short and clear as possible and to limit it to the important and most frequent genetic abnor­ malities. In particular, we have tried to take into consid­ eration the difficulties of the average student in under­ standing genetic logic and to eliminate the most common errors. This guide is not designed to provide more than basic information. No reader will arise from the study of this volume as an expert genetic counselor. That requires, in this as in all other sciences, knowledge of the highly spe­ cialized literature as well as extensive experience. Some geneticists therefore take the position that the general practitioner (or specialist in any other field of medicine) cannot possibly give proper genetic counsel to his patients. Because he is not a genetics expert, he should, without exception, refer all such cases to the geneticist. This point of view would condemn this guide as potentially more harmful than helpful in that it might increase the cases of well-meaning error as well as encouraging those who are not competent in this field to deal with problems which are beyond their capacity. We, obviously, do not share this pessimistic standpoint.

"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.

Ein bevölkerungs- und sozialstatistischer Thesaurus von Abendgymnasium über Masse bis Zuzüge. Das Lexikon enthält in einem Anhang das Bundesstatistik -, Volkszählungs- sowie das Mikrozensusgesetz. Darüber hinaus werden die Fachserien des Statistischen Bundesamtes aufgeführt. Ein Novum seines Fachs!

Hier wird ein Arbeitsmittel für das Selbststudium - erfolgreich in 13. Auflage - angeboten. Ein Begleitbuch zu Lehrbüchern der Statistik. Ein bereits an vielen Studienorten zugelassenes Hilfsmittel für Statistik-Examina und -Prüfungen, das speziell erarbeitete Unterlagen überflüssig macht. Gleichzeitig ist dieses Werk ein außerordentlich zuverlässiges, leicht zu handhabendes Nachschlagewerk für den Statistiker in der Praxis.

In 12 locker gef}gten Vorlesungen werden Ergebnisse und Probleme der Humangenetik dargestellt. Das Buch informiert und l{dt zum Nachdenken ein }ber Themen wie "Humangenetik als Wissenschaft"; die genetischen Probleme h{ufiger Krankheiten wie des Herzinfarkts; genetische Beratung und Gentherapie; oder die biologische Zukunft der Menschheit aus genetischer Sicht.

Am 15.10.1995 starb Wolfgang Jaeger im Alter von 77 Jahren. Seine zahlreichen Freunde, Kollegen, Schüler, früheren Mitarbeiter und Patienten erinnern sich an ihn als einen geistig-seelisch ganz ungewöhnlichen reichen Menschen, der fähig und bereit war, von diesem Reichtum an andere abzugeben. So ist bei vielen von uns der Wunsch aufgekommen, einen Weg zu finden, um diese Erinnerung wach und lebendig zu erhalten. Um diesem Wunsch zu entsprechen, hat die Heidelberger Akademie der Wissenschaften, deren ordentliches Mitglied er seit 1981 war, und in deren Aktivitäten sich sein breites Wissen besonders eindrucksvoll entfalten konnte, zusammen mit der Heidelberger Medizinischen Fakultät beschlossen, Wolfgang Jaeger mit dieser kleinen Schrift ein Denkmal zu setzen.

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.

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.

Am 15.10.1995 starb Wolfgang Jaeger im Alter von 77 Jahren. Seine zahlreichen Freunde, Kollegen, Schüler, früheren Mitarbeiter und Patienten erinnern sich an ihn als einen geistig-seelisch ganz ungewöhnlichen reichen Menschen, der fähig und bereit war, von diesem Reichtum an andere abzugeben. So ist bei vielen von uns der Wunsch aufgekommen, einen Weg zu finden, um diese Erinnerung wach und lebendig zu erhalten. Um diesem Wunsch zu entsprechen, hat die Heidelberger Akademie der Wissenschaften, deren ordentliches Mitglied er seit 1981 war, und in deren Aktivitäten sich sein breites Wissen besonders eindrucksvoll entfalten konnte, zusammen mit der Heidelberger Medizinischen Fakultät beschlossen, Wolfgang Jaeger mit dieser kleinen Schrift ein Denkmal zu setzen.

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.

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.

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 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 first two editions of this book, published in 1979 and in 1986, were well re­ ceived by the scientific community. Translations into Italian, Japanese, and Rus­ sian suggest that this book was regarded useful in many parts of the world. Mean­ while, human genetics has seen dramatic developments, and the "molecular revo­ lution" has attracted thousands of scientists, including many molecular biologists, to this field. About 3700 human genes have already been mapped to chromosomal sites. Many such genes have been cloned, and the various mutations causing dis­ ease have been identified. Novel mutational mechanisms such as expanded trinu­ cleotide repeats have been discovered in conditions such as Huntington''s disease and the fragile X syndrome of mental retardation. Gene action now can often be elucidated by studying the pathway from gene to phenotype following positional cloning rather than working in the opposite direction, as was customarily done be­ fore the tools of "new genetics"were available. In an increasing number of genetic diseases, the pathogenic mechanisms have been elucidated with positive conse­ quences for prevention and treatment. It therefore became necessary to rewrite al­ most completely major portions of this book. These developments are now making genetics arguably the leading basic science for medicine, as well as a recognized medical speciality. But all these changes do not mean that the entire framework of human genetics had to be reconstructed.

Das vorliegende Buch ist hervorgegangen aus einer Lehrveranstaltung, die ich an der Universität zu Köln hielt. Seine endgültige Fassung wurde mitbestimmt von Diskussionen mit und Fragen von den Teilneh­ mern. Daraus ergab sich fast zwangsläufig eine Zweiteilung des Buches in die Grundlagen der Matrizenrechnung einerseits und in ihre Anwen­ dungen in der Betriebswirtschaft andererseits. Im ersten Teil des Buches werden Kenntnisse über Matrizen und Matrizenoperationen vermittelt. Dabei werden im wesentlichen nur die Gebiete der Matrizenrechnung behandelt, die zum Verständnis der im zweiten Teil dargestellten Anwendungsmöglichkeiten in der Betriebs­ wirtschaft benötigt werden. Speziellere Verfahren, wie zum Beispiel die Behandlung von Eigenwertproblemen, werden daher ausgeklammert. Ich habe darauf Wert gelegt, die Grundlagen der Matrizenrechnung in systematischer, knapper und doch verständlicher Form darzulegen. Zahlreiche Beispiele sollen zur Veranschaulichung beitragen. Auf umfangreiche mathematische Beweise und Herleitungen wird - von Ausnahmen abgesehen - bewußt verzichtet, da hierzu bereits ausrei­ chend Literatur vorhanden ist. Sie werden nur insoweit vorgetragen, als sie zum Verständnis erforderlich sind. Übermatrizen und speziell dafür vorgesehenen Inversionsverfahren ist ein eigenes Kapitel gewid­ met, weil in der Literatur oft mit Übermatrizen gearbeitet wird und weil Matrizen betrieblicher Produktionssysteme, wenn diese in Sub­ systeme zerfallen, häufig als Übermatrizen dargestellt werden. Eine Erweiterung der Grundkenntnisse erfolgt im Zusammenhang mit prak­ tischen Problemen.