Advances in Human Genetics 9

During the last few yea.rs the science of human genetics has been expanding almost explosively. Original papers dealing with different aspects of the subject are appearing at an increasingly rapid rate in a very wide range of journals, and it becomes more and more difficult for the geneticist and virtually impossible for the nongeneticist to keep track of the developments. Furthermore, new observations and discoveries relevant to an overall understanding of the subject result from investigations using very diverse techniques and methodologies and originating in a variety of different disciplines. Thus, investigations in such various fields as enzymology, immunology, protein chemistry, cytology, pediatrics, neurology, internal medicine, anthropology, and mathematical and :;tatistical genetics, to name but a few, have each contributed results and ideas of general significance to the study of human genetics. Not surprisingly it is often difficult for workers in one branch of the subject to assess and assimilate findings made in another. This can be a serious limiting factor on the rate of progress. Thus, there appears to be a real need for critical review articles which summarize the positions reached in different areas, and it is hoped that '~Advances in Human Genetics" will help to meet this requirement. Each of the contributors has been asked to write an account of the position that has been reached in the investigations of a specific topic in one of the branches of human genetics. The reviews are intended to be critical and to deal with the topic in depth from the writer's own point of view. It is hoped that the articles will provide workers in other branches of the subject, and in related disciplines, with a detailed account of the results so far obtaint:d in the particular area, and help them to assess the relevance of these discoveries to aspects of their own work, as well as to the science as a whole. The reviews are also intended to give the reader some idea of the nature of the technical and methodological problems involved, and to indicate new directions stemming from recent advances. Front Matter....Pages i-xiv Chromosomes and Neoplasia....Pages 1-70 Terminological, Diagnostic, Nosological, and Anatomical-Developmental Aspects of Developmental Defects in Man....Pages 71-164 Human Alphafetoprotein 1956–1978....Pages 165-228 Genetic Mechanisms Contributing to the Expression of the Human Hemoglobin Loci....Pages 229-291 Genetic Aspects of Folate Metabolism....Pages 293-354 Erratum to: Chromosomes and Neoplasia....Pages 355-360 Erratum to: Genetic Mechanisms Contributing to the Expression of the Human Hemoglobin Loci....Pages 361-367 Genetic Aspects of Folate Metabolism....Pages 367-369 Back Matter....Pages 371-379