Advances in Human Genetics 1

ISBN-13: 9781468409604 / Angielski / Miękka / 2012 / 340 str.

Harry Harris

Opis

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."

Spis treści

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.- Radioactive Isotopes.- Photographic Emulsions.- Autoradiographic Efficiency.- Resolution.- Special Considerations in the Study of DNA.- Statistical Aspects of Autoradiography.- DNA Synthesis and the Cell Cycle.- The Timing of DNA Synthesis.- The Rate of DNA Synthesis.- The Order of DNA Synthesis.- Chromosome Identification and Characterization.- Terminal Labeling Characteristics of Specific Chromosomes.- Initial Labeling Patterns.- Comparison of DNA Content of Chromosomes.- The Functional Significance of DNA Replication Patterns.- Late Replication and Heterochromatin.- The Function of Heterochromatin.- DNA Replication Patterns and Differentiation.- RNA Synthesis and the Regulation of Gene Action.- Nuclear Control.- Cytoplasmic Control of Gene Action and Replication.- The Timing of Gene Action.- Organization and Replication of the Genetic Material.- DNA Replication at the Molecular Level.- Higher Levels of Organization.- The Control of DNA Replication.- Chromosome Duplication and Segregation.- Chromatid Segregation and Assortment.- Chromosome Structure.- Time of Crossing Over.- Other Applications of Autoradiography.- The Genie Content of Specific Chromosomes.- Etiology of Chromosome Breaks.- Control of Gene Action in Development.- Chromosomes and Evolution.- Acknowledgments.- 3 Genetics of Immunoglobulins.- Serology and Phenogroups of Immunoglobulins.- Mouse.- Rabbit.- Human.- Relation of Genetic Factors to Polypeptide Chains and Differences in Primary Structure.- Mouse.- Rabbit.- Human.- Evolutionary Aspects of Antigenic Determinants.- Within Species.- Between Species.- Expression of Immunoglobulins.- Expression of Immunoglobulin Genes on Individual Molecules.- Expression of Immunoglobulin Classes in the Immune Response.- Cellular Expression of Alleles of the Immunglobulin Loci.- 4 Human Genetics of Membrane Transport with Emphasis on Amino Acids.- Membrane Transport.- General Comments.- Descriptive Terms.- Genetic Variation.- Characteristics of the Transport Process.- Relevance of Transport to the Distribution of Amino Acids in Body Fluids.- Characteristics Which Can be Determined invivo and invitro.- Summary and Interpretation of the Characteristics of Membrane Transport Systems.- Ontogeny of Membrane Transport Systems.- Human Genetics of Membrane Transport (Amino Acids).- Evidence for Several Genetic Loci Controlling Membrane Transport of Amino Acids.- Genetic Heterogeneity Within Loci.- Summary.- 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.- Cystic Fibrosis of the Pancreas.- Congenital Hypoplasia of the Exocrine Pancreas.- Lipase Deficiency.- Trypsinogen Deficiency.- Amylase Deficiency.- Malabsorption Syndromes.- Celiac Disease.- Milk Protein Intolerance.- Malabsorption Syndromes and Immunologic Deficiencies.- Failures of Chylomicron Formation.- Congenital Absence of ?-Lipoproteins.- Type II.- Disturbances in Carbohydrate Hydrolysis and Sugar Transport.- Sucrose and Isomaltose Intolerance.- Lactose Intolerance.- Glucose-Galactose Malabsorption.- Disorders of Amino Acid Transport.- Cystinuria.- Familial Protein Intolerance with Deficient Transport of Basic Amino Acids.- Hartnup Disease.- Blue Diaper Syndrome.- Methionine Malabsorption Syndrome.- Miscellaneous.- Chloride Diarrhea with Alkalosis.- Specific Malabsorption of Vitamin B12.- Specific Malabsorption of Folic Acid.