Advances in Human Genetics

1 The Chondrodystrophies.- Classification of the Chondrodystrophies.- Evaluation of the Dwarfed Patient.- Clinical, Radiographic, Genetic, and Pathological Features of the Chondrodystrophies.- Achondroplasia.- Hypochondroplasia.- Thanatophoric Dwarfism.- Achondrogenesis..- Diastrophic Dwarfism.- Diastrophic Variant.- Chondrodysplasia Punctata.- The Multiple Epiphyseal Dysplasias.- The Spondyloepiphyseal Dysplasias.- The Pseudoachondroplastic Dysplasias.- Metatropic Dwarfism.- The Kniest Syndrome.- Parastremmatic Dwarfism.- Dyggve-Melchior-Clausen Syndrome.- Spondylometaphyseal Dysplasia.- The Metaphyseal Chondrodysplasias (Metaphyseal Dysostoses).- Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome).- Asphyxiating Thoracic Dysplasia (Asphyxiating Thoracic Dystrophy, Jeune Syndrome).- Mesomelic Dwarfism.- Acromesomelic Dwarfism.- Acrodysplasia (Peripheral Dysostosis).- The Mucopolysaccharidoses.- Animal Models of the Chondrodystrophies.- Future Trends in Chondrodystrophy Research.- 2 New Techniques in the Study of Human Chromosomes: Methods and Applications.- Fluorescence Microscopy.- The Q Bands.- The R Bands.- The T Bands.- Giemsa Staining.- The G Bands.- The R Bands.- The C Bands.- The Usage of Banding Techniques.- Abnormalities Detected by Banding Analysis.- Trisomy 21.- Trisomy 13.- Trisomy 18.- Trisomy 8.- Partial Trisomy.- Cri du Chat Syndrome.- Deletion of the Short Arm of Chromsome 4.- Monosomy 21.- Translocation Studies.- Sex Chromosome Anomalies.- Acquired Anomaly: The Ph1 Chromosome.- Chemical Properties of the Bands.- The DNA Hypothesis.- The Protein Hypothesis.- The DNA-Protein Complex.- Technical Appendix.- 3 The Thalassemias: Models for Analysis of Quantitative Gene Control.- History.- Early Descriptions.- Early Concepts of Etiology.- Post-1949 History.- Definition.- Organization of Globin Genes.- Position on Chromosomes.- Organization Within the Non-? Cistrons.- Organization Within the ? Cistrons.- Ontogeny of Hemoglobin Production.- Inheritance of Thalassemia.- Frequency of Thalassemia.- Reported Population Studies.- Detection.- Strategies for Screening.- Should Screening for Thalassemia Be Done?.- Regulation of Hemoglobin Synthesis and Turnover.- Transcription of Hemoglobin Genes.- Intracellular Expression of the Genes.- Globin Gene Transcription During Erythropoiesis.- Transcription of Globin Genes in Vitro Using Isolated Chromatin.- Intranuclear Processing of the Primary Gene Product.- Transport of Messenger RNA to the Cytoplasm.- Cytoplasmic Metabolism of Messenger RNA.- Structure of Cytoplasmic Messenger Ribonucleoprotein.- Is There a “Storage” Form of Globin Messenger RNA?.- Messenger RNA Utilization for Protein Synthesis.- Balance of Hemin and Globin (Protein) Synthesis in Reticulocytes.- Other Steps in Hemoglobin Synthesis and Degradation.- Assembly of Newly Synthesized Hemoglobin Molecules.- Erythrocyte Life Spans and the Degradation of Globin.- Loss of Protein Synthetic Capacity During Erythrocyte Maturation.- Pathophysiology of the Thalassemias.- Pedigree of Causes.- Effects of Excess Non-? Chains.- Effects of Excess ? Chains.- Directions in Therapy.- Note Added in Proof.- 4 Spontaneous Mutation in Man.- The Problem.- Types of Mutation.- “Classical” Mutation Rates.- Methods for Estimation of Human Mutation Rates.- Mutation Rate Results.- Relationship Between Spontaneous Mutation Rate and Age of Father.- The Problem of a Sex Difference in Mutation Rates.- Germ Cell Development in the Human Male and Female in Relation to the Mutation Process.- Clusters of Point Mutations Pointing to Mosaicism.- Molecular Aspects of Human Mutation.- Mutations in Single Cells.- Human Hemoglobin Variants as Tools for Analysis of Some Aspects of the Mutation Process.- Spontaneous Mutation in Other Organisms and Its Significance for the Understanding of Human Mutations.- Mutation Rate.- Molecular Mechanisms of Mutation.- 5 Genetic Screening Legislation.- The Public Health Power.- The Legal Framework.- The Interest of the State.- Constitutional Constraints.- The Exercise of the Public Health Power.- Legislation Mandating Detection of Genetic Disease.- The Phenylketonuria Laws.- Content Analysis.- Generalized Neonatal Screening Laws.- Legislation Mandating Screening for Genetic Traits.- Early Sickle Cell Anemia Laws: Genesis and Controversy.- The Content of the Laws.- Federal Legislation.- Recent Sickle Cell Anemia Laws.- Future of State-Supported Genetic Screening.- The Screening Imperative.- Future Laws.- State Action to Influence Procreation?.