Full Description
During the last few years 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 non geneticist to keep track of the develop ments. 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 statistical 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.
Contents
1 Analysis of Pedigree Data.- The Nature of Pedigree Data.- The Purpose of Pedigree Analysis.- The Analysis of Marker Data at Single Loci (Allelism and Segregation).- The Analysis of Marker Data of Multiple Loci (Linkage).- Variates.- The Estimation of Phenotypic Correlation.- Analysis of States.- Heritability.- Other Uses of Pedigree Data.- Summary.- 2 Autoradiography in Human Cytogenetics.- Technical Aspects.- DNA Synthesis and the Cell Cycle.- Chromosome Identification and Characterization.- The Functional Significance of DNA Replication Patterns.- RNA Synthesis and the Regulation of Gene Action.- Organization and Replication of the Genetic Material.- Other Applications of Autoradiography.- Acknowledgments.- 3 Genetics of Immunoglobulins.- Serology and Phenogroups of Immunoglobulins.- Relation of Genetic Factors to Polypeptide Chains and Differences in Primary Structure.- Evolutionary Aspects of Antigenic Determinants.- Expression of Immunoglobulins.- 4 Human Genetics of Membrane Transport with Emphasis on Amino Acids.- Membrane Transport.- Characteristics of the Transport Process.- Ontogeny of Membrane Transport Systems.- Human Genetics of Membrane Transport (Amino Acids).- Genetic Control of Transport Systems in Various Tissues.- Treatment and Counseling.- Conclusion.- Acknowledgments.- 5 Genetics of Disorders of Intestinal Digestion and Absorption.- Pancreatic Enzyme Deficiencies.- Malabsorption Syndromes.- Failures of Chylomicron Formation.- Disturbances in Carbohydrate Hydrolysis and Sugar Transport.- Disorders of Amino Acid Transport.- Miscellaneous.
