Molecular Genetic Medicine

Abstract

Molecular Genetic Medicine, Volume II, summarizes progress in several of the most important areas of modern molecular genetics and medicine. The chapters deal with ancient and common genetic diseases, a new infectious disease that threatens to become a world-wide scourge for all of humanity, and two of the most important and still poorly understood causes of mental retardation. The common thread winding through these separate stories is the astounding illumination of all these disorders by modern molecular genetic studies. The book opens with a chapter on the history of the molecular approach. Front Cover; Molecular Genetic Medicine; Copyright Page; Table of Contents; Contributors; Preface; Chapter 1.The Impact of Molecular Biology on the Diagnosis and Treatment of Hemoglobin Disorders; I. DISEASES OF HEMOGLOBIN; II. GLOBIN GENE ORGANIZATION; III. CONTROL OF GLOBIN GENE EXPRESSION; IV. THALASSEMIAS; V. HEMOGLOBINOPATHIES; VI. ANALYSIS OF GLOBIN GENE FUNCTION; VII. SWITCHING; VIII. GENE THERAPY; Acknowledgments; References; Chapter 2.The fragile X Syndrome; I. INTRODUCTION; II. HISTORY OF THE FRAGILE X SYNDROME; III. EPIDEMIOLOGY OF FRAGILE X SYNDROME IV. FEATURES OF AFFECTED AND TRANSMITTING MALESV. THE ASSOCIATION OF FRAGILE X AND AUTISM; VI. CARRIER FEMALES; VII. CYTOGENETICS OF THE FRAGILE X SYNDROME; VIII. TREATMENT; IX. PRENATAL DIAGNOSIS; X. DNA MOLECULAR MARKERS; XI. THEORIES REGARDING THE NATURE OF THE fra(X) MUTATION; XII. APPROACHES TO DEFINE THE NATURE OF THE MUTATION; XIII. CONCLUSIONS; References; Chapter 3.Hepatitis B Virus Biology and Pathogenesis; I. OVERVIEW OF THE PROBLEM; II. DISCOVERY OF THE VIRUS; III. GENETIC ORGANIZATION OF THE HBV GENOME; IV. VIRAL MORPHOGENESIS; V. HEPATOCELLULAR CARCINOMA VI. FUTURE PROSPECTS, OPPORTUNITIES, AND CHALLENGESReferences; Chapter 4. The Molecular Genetics of Down Syndrome; I. INTRODUCTION; II. GENE DOSAGE EFFECTS; III. MOLECULAR DEFINITION OF THE DS REGION OF HSA-21; IV. ANIMAL MODELS OF DOWN SYNDROME; V. SUMMARY; Acknowledgments; References; Chapter 5. Mammalian X Chromosome Inactivation; I. INTRODUCTION; II. INITIATION OF X INACTIVATION; III. SPREADING OF THE X INACTIVATION SIGNAL; IV. MAINTENANCE OF X INACTIVATION; V. PERSPECTIVES; Acknowledgments; References Chapter 6. Molecular Analysis of Mutation in the Human Gene for Hypoxanthine PhosphoribosyltransferaseI. INTRODUCTION; II. THE HPRT ENZYME AND CLINICAL FEATURES OF HPRT DEFICIENCY; III. LOCALIZATION, STRUCTURE, AND EXPRESSION OF THE hprt GENE; IV. GERM-LINE MUTATIONS IN HPRT-DEFICIENT PATIENTS; V. SOMATIC hprt MUTATIONS; VI. CONSIDERATIONS ABOUT THE SOMATIC AND GERM-LINE MUTATIONAL SPECTRA IN THE HUMAN hprt GENE; References; Chapter 7. Regulatory Genes of Human Immunodeficiency Viruses; I. INTRODUCTION; II. RETROVIRUS LIFE CYCLE; III. COUPLING OF VIRUS REPLICATION TO CELL CYCLE AND ACTIVATION IV. HIV REGULATORY GENESV. THE Tat TRANS-ACTIVATION PATHWAY; VI. EXPANDED REPERTOIRE OF Tat ACTIVITIES; VII. THE Rev TRANS-ACTIVATION PATHWAY; VIII. VIRAL PROTEINS; IX. CONCLUSIONS; References; Index