Main description:

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.

Contents:

1 Human Genetics in a Wider Perspective.- Presidential Address. Human and Medical Genetics: Past, Present, and Future.- Our Mutation Load.- Cultural Evolution and Genetics.- The Ecumenical Future of Human Genetics.- Human Genetics and the Responsibility of the Medical Doctor.- 2 Structure of the Human Genome.- Human Genomics 1986: Toward a Complete Gene Map and Nucleotide Sequence of the Human Genome.- Progress Toward an Accurate Human Linkage Map.- HLA, Immune Response, and Disease.- Molecular Genetics: An Approach Towards the Basic Defect Causing Cystic Fibrosis.- A Molecular Analysis of X-Linked Disease.- Molecular Techniques in Mammalian Genetics: A New Era in Genetic Analysis.- Human Sex Chromosomes: Molecular Analyses Have Not Yet Provided All the Answers.- Homologies Between the Sex Chromosomes of Man.- Molecular Diagnosis of X-Linked Disorders.- Mitochondrial Clans and the Age of Our Common Mother.- Functions of the Proteins Encoded in Human Mitochondrial DNA.- Evolutionary Implications of Mitochondrial DNA Polymorphism in Human Populations.- Mammalian Genes and Islands on Non-Methylated CpG-Rich DNA.- Antibodies and T-Cell Receptors: Jumping Genes and Supergene Families and New Instruments for Studying Them.- Detection and Estimation of Linkage, Especially Multipoint Mapping.- Molecular Human Genetics - Strategies of Gene Identification.- X Chromosome Inactivation.- Workshop on Repetitive DNA in Mammalian Genomes.- 3 Cytogenetics and Development.- Microdeletions and Mendelian Phenotypes.- Autosomal Disorders: New Frontiers of the Phenotype.- Contribution of High-Resolution Banding and In Situ Hybridization to Clinical Cytogenetic Diagnosis.- Phenotypic-Karyotypic Correlations of Gonadal Determinants: Current Status and Relationship to Molecular Studies.- Chromosome Abnormalities: Origin and Etiology in Abortions and Livebirths.- Androgenesis and Parthenogenesis in Humans.- AB0 and HLA Systems: Effects of Maternal Incompatibilities on the Conceptus.- Meiosis and Male Infertility.- Aneuploidy in Mouse and Man.- Chromosome Sorting.- Genetics and Molecular Biology of Lethal Genes in the Mouse T/t Complex.- Two-Dimensional Electrophoretic Protein Analysis in Human Genetics.- 4 Genetic Mechanisms in Hereditary Disease.- ?-Thalassemic Syndromes As a Model for the Study of the Molecular Basis of Human Inherited Disease.- Common Disease: From Phenotype to Genotype.- Taxonomy and Inheritance of Anxiety States.- The Genetics of Hypertension: An Unsolved Puzzle With Many Pieces.- Genetic Risk Factors for Atherosclerotic Disease.- Apolipoprotein Gene Mutations, Dyslipoproteinemia and Coronary Heart Disease.- Peroxisomal Disorders.- Clinical Approach to Inherited Peroxisomal Disorders.- Inherited Peroxisomal Disorders: Defects in the Oxidation of Very Long Chain Fatty Acids and Phytanic Acid.- Peroxisomal Disorders: Biochemical Characteristics and Genetic Relationship Between the Different Diseases.- Biogenesis of Peroxisomes: Implications for Zellweger Syndrome.- Transgenic Mice in the Study of Human Disease.- Workshop: Nosology of the Inherited Disorders of Connective Tissue.- Nosologic Grouping in Birth Defects.- Summary of the Workshop on DNA Repair Defects.- Summary of the Workshop on New Approaches in Twin Research: Applications in Genetic Epidemiology.- The Temporal Dimension of the Gene.- Summary of the Workshop on Clinical and Genetic Heterogeneity of Fanconi's Anemia.- 5 Single Cell and Cancer Genetics.- Chromosome Abnormalities and Oncogenes in Human Leukemia and Lymphoma.- Comparative Genetic Analysis of Homeo-Box Genes in Mouse and Man.- The Role of the Ph Chromosome in Chronic Myelocytic Leukemia.- Somatic Cell and Molecular Genetics of Growth Factor Receptors.- 6 Psychobiological and Behavior Genetics; Pharmacogenetics.- Sex-Linked Mental Retardation.- to the Symposium on Psychobiological Genetics.- Single Gene Effects in Psychiatric Disorders.- Genetics and Schizophrenia - Current State of Negotiations.- Inbreeding and the Epidemiology of Schizophrenia.- Gene Activity in the CNS, a Tool for Understanding Brain Function and Dysfunction.- Pharmacogenetic Approaches to the Study of Brain Function.- to the Symposium on Pharmacogenetics.- Genetic Variation and Basis of Alcohol Metabolism and Response.- Genetic Variation in the Hepatic Cytochrome P-450 System.- Genetic Variations in Hydrolytic Enzymes: Human Serum Cholinesterase and Paraoxonase.- The N-Acetyl Transferase Polymorphism and Its Clinical Relevance.- Workshop on the Rett Syndrome.- 7 Genes and Birth Defects in Populations.- Hereditary Diseases in Asia: Chairman's Introduction.- Incidence of Genetic Disease in Japan.- Medical Genetic Survey of Soviet Middle Asian Populations.- Anthropogenetic Study of Variation in the Craniospinal Joint.- Genetic Diseases in China - Some Epidemiological Features.- Workshop on Population Genetics: Field Studies.- Workshop on Human Genetics Problems in the Third World.- Workshop on the Epidemiology of Congenital Anomalies.- Workshop on the Genetic Aspects of Human Adaptation.- 8 Genetic Counseling and Prenatal Diagnosis.- Chromosomal Findings in Chorionic Villi: A Collaborative Study.- Chromosome Study of Chorionic Villi After Short-Term Incubation: Diagnostic and Experimental Applications.- Worldwide Experience with First-Trimester Fetal Diagnosis by Molecular Analysis.- Workshop on Genetic Counseling.- Workshop on Gene Mapping and Genetic Prediction for Autosomal Dominant Disorders.- Workshop on the Prevention of Inherited Hemoglobinopathies.- Workshop on the Prenatal Diagnosis of Cystic Fibrosis.- Workshop on Training in Medical Genetics.- 9 Genetic Engineering and Gene Therapy.- Adenosine Deaminase Gene Transfer.- Open Fetal Surgery 1986.- Medical In-Utero Therapy.- 10 Ethical and Legal Issues.- Ethics and Human Genetics: A Cross-Cultural Study in 17 Nations.- Comparative Law and Legislation on Eugenic Sterilization and Selective Abortion.- Ethical Issues in Reproductive Alternatives for Genetic Indications.- Permanent Committee for the International Congresses of Human Genetics.