Advances in Human Genetics: 12

ISBN-13: 9781461583172 / Angielski / Miękka / 2012 / 488 str.

Harry Harris; Kurt Hirschhorn

Spis treści

1 Genetic Disorders of Collagen Metabolism.- Collagen and Procollagen.- Collagen Chains.- Collagen Types.- Distribution.- Classification.- Collagen Genes.- Biosynthesis of Collagen.- Extracellular Processing.- Molecular Packing.- Cross-linking.- Degradation.- Disorders of Collagen Metabolism.- The Ehlers-Danlos Syndrome.- The Marfan Syndrome.- Cutis Laxa.- The Osteochondrodysplasias.- Concluding Remarks.- References.- 2 Advances in Genetics in Dermatology.- Disorders of Keratinization.- Epidermal Structure, Replication, and Keratinization.- Disorders of the Epidermis.- Disorders of the Epidermal-Dermal Junction.- Epidermolysis Bullosa.- Neurocutaneous Disorders.- Neurofibromatosis.- Tuberous Sclerosis.- Metabolic Disorders.- Acrodermatitis Enteropathica.- Refsum Syndrome.- Richner-Hanhart Syndrome.- Tumors in Genetic Diseases.- Basal Cell Nevus Syndrome.- Xeroderma Pigmentosum.- Epidermodysplasia Verruciformis.- Disorders of Hair.- Structure, Growth, and Keratinization of Hair.- Diseases of Hair.- References.- 3 Haptoglobin: The Evolutionary Product of Duplication, Unequal Crossing Over, and Point Mutation.- Historical.- Detection and Quantitation.- Major Phenotypes.- Occurrence in Physiological Fluids.- Characterization of Glycoprotein Structure.- Subunit Isolation.- Amino Acid Composition.- Carbohydrate Composition.- Molecular Weight.- Isoelectric Point.- Primary Structure.- Chain Arrangements.- Polymer Characterization.- Homology with the Chymotrypsinogen Family of Serine Proteases.- Reaction of Haptoglobin with Hemoglobin.- Characterization and Stoichiometry.- Binding Site on Hemoglobin.- Binding Site on Haptoglobin.- Species Specificity of Hemoglobin Binding.- Haptoglobin from Species Other Than Human.- Haptoglobin Variants.- Hp 2-1 Modified.- Hp 2-1 (Trans), Ha, and Ab.- Hp Carlsberg.- Hp P, H, L, B, and D.- Hp Johnson.- Hp°, the Silent Allele.- ?-Chain Variants of Human Haptoglobin.- Immunologic Aspects of Haptoglobin.- Biosynthesis and Catabolism.- Haptoglobin in Disease.- Gene Characterization.- Chromosomal Localization.- Linkage Studies.- Population Genetics.- Selection for Haptoglobin Alleles.- The Haptoglobin Gene.- References.- 4 Models of Human Genetic Disease in Domestic Animals.- Congenital Heart Disease.- Background and Hypotheses in Man.- Animal Models of Congenital Heart Disease.- Lysosomal Storage Diseases.- Background, Animal Models.- The Gangliosidoses.- The Mucopolysaccharidoses.- Genetic Disorders of the Immune Systems.- General Description of the Systems.- Animal Models of Immunodeficiency Disease.- Concluding Remarks.- References.- 5 Mapping the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease.- The Impact of Recombinant DNA on Human Genetics.- Constructing the Molecular Map.- Assignment of Cloned Genes.- Undefined DNA Segments as Genetic Markers.- DNA Polymorphisms as Genetic Markers.- Constructing the Genetic Map.- Close Linkage.- Assignment of Genes to Chromosomes and Regions of Chromosomes.- Dissection and Mapping of Human Disease.- Mapping Inherited Disease.- Genetic Dissection of Disease.- The Human Gene Maps.- Markers for Mapping the Human Genome.- The 24 Nuclear Gene Maps.- Unassigned Linkage Groups.- The Mitochondrial Gene Map.- Comparative Genetics of the Human Genome.- Merging the Genetic and Molecular Maps.- Conclusions.- Appendix A. Chromosome Assignment of Human Gene Markers.- Appendix B. Alphabetical Listing of Human Genes Assigned to Chromosomes.- Appendix C. Linkage Groups Not Assigned to Chromosomes.- References.- Addendum.