Advances in Human Genetics 15

1 Chromosomal Abnormalities in Leukemia and Lymphoma: Clinical and Biological Significance.- Methods.- Chronic Myelogenous Leukemia (CML).- Chronic Phase of CML.- Acute Phase of CML.- The Ph1 Chromosome As a Biological Marker.- Acute Nonlymphocytic Leukemia (ANLL) de Novo.- Chromosome Gain and Loss.- Structural Rearrangements.- Acute Nonlymphocytic Leukemia Induced by Treatment.- Acute Lymphocytic Leukemia (ALL).- The 8;14 Translocation.- 14q+.- The 4;11 Translocation.- Near-Haploid ALL.- Hyperdiploidy with 50¿60 Chromosomes.- The Ph1 Chromosome in ALL.- Malignant Lymphoma (ML).- Burkitt Lymphoma.- Other Non-Hodgkin Lymphoma.- The Biological Significance of Consistent Chromosomal Abnormalities.- When Do Chromosomal Rearrangements Occur?.- Defining the Critical Recombinant Chromosome.- Chromosomal Localization of Cellular Oncogenes.- Specificity of Chromosomal Rearrangements.- References.- 2 An Algorithm for Comparing Two-Dimensional Electrophoretic Gels, with Particular Reference to the Study of Mutation.- The Theory and Practice of Two-Dimensional Gels, with Particular Reference to the Study of Mutation.- The General Problem of Image Comparison.- Thresholding Spot Intensity.- Adjusting for Positional Variations.- A Set of Algorithms for Detecting Potential Mutational Events.- Estimating the Locations of Protein Spots.- Defining Spot Neighborhoods.- Finding a Subset of Matching Spots.- Iteration of Matching Step.- Recovery from Mismatches.- What the Algorithm Does Not Do.- Validation of the Current Algorithm.- Algorithm Performance on Artificially Constructed Gels.- Algorithm Performance on Real Gels.- Algorithm Performance on Simulated Mutations.- Improving the System: Necessary Developments in the Algorithm.- A More Rigorous Treatment of the Noise Function.- Improving the Accuracy of the Algorithm.- Increasing the Speed of Execution.- of a Priori Knowledge.- Improving the System: Necessary Developments in Two-Dimensional Gels.- Experimental Validation of This Approach.- Some Issues in Data Management.- Summary.- Recent Developments.- References.- 3 The Human Argininosuccinate Synthetase Locus and Citrullinemia.- Historical Aspects.- Biology of the Argininosuccinate Synthetase Locus.- Biochemistry of the Enzyme.- Cloning of Human Argininosuccinate Synthetase Gene.- Argininosuccinate Synthetase Pseudogenes.- Citrullinemia¿Clinical Aspects.- General Description.- Differential Diagnosis.- Therapy.- Prognosis.- Prenatal Diagnosis.- Molecular Analysis in Citrullinemia.- Molecular and Genetic Analysis of Regulation.- Gene Transfer Using the Argininosuccinate Synthetase Locus.- Future Directions.- References.- 4 Molecular Genetics of the Human Major Histocompatibility Complex.- Characterization of the HLA Genes.- Isolation of the HLA (Class I and II) Genes.- Multiplicity of Class I and Class II Genes.- Structure, Polymorphism, and Evolution of the HLA Genes.- HLA Genes As Probes.- Transcription.- Genetic Polymorphism and Disease Association.- Function.- Conclusion.- References.- 5 Genetics of Human Alcohol and Aldehyde Dehydrogenases.- Alcohol Dehydrogenases.- Definition.- Nomenclature of Human ADH Loci.- Tissue Distribution of ADH Isozymes.- Genetic Variation in ADH.- Population Frequencies of Class I ADH Allelic Variants.- Purification of Human ADH.- Kinetic Differences between ADH Isozymes.- Determinations of the Amino Acid Sequences of ADH Isozymes.- Studies on the Immunologic Properties of ADH Isozymes.- Molecular Genetic Studies on Alcohol Dehydrogenase.- Aldehyde Dehydrogenases.- Definition.- Nomenclature of Human Aldehyde Dehydrogenase (ALDH)Loci.- Tissue Distribution of ALDH Isozymes.- Allelic Variation in ALDH Isozymes.- Structure of ALDH Isozymes.- Properties of ALDH Isozymes.- Amino Acid Sequence Determinations of ALDH Polypeptides.- Formaldyhyde Dehydrogenase (FDH).- Molecular Studies on ALDH Genes.- Chromosomal Assignment of ALDH1 and ALDH2 Genes.- References.- Addendum.