Inhaltsverzeichnis
1 The Pi Polymorphism: Genetic, Biochemical, and Clinical Aspects of Human ? 1-Antitrypsin. - Historical Review. - Pi Variants. - Biochemical Aspects. - Metabolism of ? 1-Antitrypsin. - Association between Pi Types and Disease. - Protease Inhibitor Systems and Disease Mechanisms. - Unresolved Problems. - References. - 2 Segregation Analysis. - Mathematical Formulation of Genetic Models. - The Likelihood Method. - Examples of Segregation Analysis. - Conclusion. - Appendix: Notes on Computational Methods. - References. - 3 Genetic, Metabolic, and Biochemical Aspects of the Porphyrias. - Tetrapyrroles. - Enzymes and Intermediates of the Heme Biosynthetic Pathway. - Regulation of Enzymes of Heme Biosynthesis. - Classification of the Human Porphyrias. - References. - 4 The Molecular Genetics of Thalassemia. - The New Genetics. - The Nature of Thalassemias. - DNA Polymorphisms in the ? -like Globin Gene Cluster. - Prenatal Diagnosis of Hemoglobin Disorders by DNA Analysis. - Additional Approaches to the Correlation of Gene Structure and Function. - Summary and Conclusions. - References. - 5 Advances in the Treatment of Inherited Metabolic Diseases. - Metabolic Manipulation. - Gene Product Therapy. - Enzyme Replacement Therapy. - Gene Therapy. - References. - Addenda.
