Molecular Genetic Medicine (eBook)

Front Cover 1
Molecular Genetic Medicine 4
Copyright Page 5
Table of Contents 6
Contributors 10
Preface 12
Chapter 1. 
16 
I. DISEASES OF HEMOGLOBIN 16
II. GLOBIN GENE ORGANIZATION 17
III. CONTROL OF GLOBIN GENE EXPRESSION 20
IV. THALASSEMIAS 31
V. HEMOGLOBINOPATHIES 36
VI. ANALYSIS OF GLOBIN GENE FUNCTION 38
VII. SWITCHING 40
VIII. GENE THERAPY 42
Acknowledgments 45
References 45
Chapter 2. 
54 
I. INTRODUCTION 54
II. HISTORY OF THE FRAGILE X SYNDROME 55
III. EPIDEMIOLOGY OF FRAGILE X SYNDROME 56
IV. FEATURES OF AFFECTED AND TRANSMITTING MALES 57
V. THE ASSOCIATION OF FRAGILE X AND AUTISM 61
VI. CARRIER FEMALES 62
VII. CYTOGENETICS OF THE FRAGILE X SYNDROME 62
VIII. TREATMENT 64
IX. PRENATAL DIAGNOSIS 65
X. DNA MOLECULAR MARKERS 65
XI. THEORIES REGARDING THE NATURE OF THE fra(X) MUTATION 71
XII. APPROACHES TO DEFINE THE NATURE OF THE MUTATION 72
XIII. CONCLUSIONS 74
References 75
Chapter 3. 
82 
I. OVERVIEW OF THE PROBLEM 82
II. DISCOVERY OF THE VIRUS 83
III. GENETIC ORGANIZATION OF THE HBV GENOME 87
IV. VIRAL MORPHOGENESIS 91
V. HEPATOCELLULAR CARCINOMA 98
VI. FUTURE PROSPECTS, OPPORTUNITIES, AND CHALLENGES 107
References 108
Chapter 4. The Molecular Genetics of Down Syndrome 120
I. INTRODUCTION 120
II. GENE DOSAGE EFFECTS 121
III. MOLECULAR DEFINITION OF THE DS REGION OF HSA-21 125
IV. ANIMAL MODELS OF DOWN SYNDROME 127
V. SUMMARY 132
Acknowledgments 132
References 132
Chapter 5. Mammalian X Chromosome Inactivation 136
I. INTRODUCTION 136
II. INITIATION OF X INACTIVATION 141
III. SPREADING OF THE X INACTIVATION SIGNAL 148
IV. MAINTENANCE OF X INACTIVATION 152
V. PERSPECTIVES 164
Acknowledgments 165
References 165
Chapter 6. Molecular Analysis of Mutation in the Human Gene for Hypoxanthine Phosphoribosyltransferase 176
I. INTRODUCTION 176
II. THE HPRT ENZYME AND CLINICAL FEATURES OF HPRT DEFICIENCY 177
III. LOCALIZATION, STRUCTURE, AND EXPRESSION OF THE hprt GENE 179
IV. GERM-LINE MUTATIONS IN HPRT-DEFICIENT PATIENTS 182
V. SOMATIC hprt MUTATIONS 186
VI. CONSIDERATIONS ABOUT THE SOMATIC AND GERM-LINE MUTATIONAL SPECTRA IN THE HUMAN hprt GENE 193
References 200
Chapter 7. Regulatory Genes of Human Immunodeficiency Viruses 204
I. INTRODUCTION 204
II. RETROVIRUS LIFE CYCLE 205
III. COUPLING OF VIRUS REPLICATION TO CELL CYCLE AND ACTIVATION 206
IV. HIV REGULATORY GENES 209
V. THE Tat TRANS-ACTIVATION PATHWAY 209
VI. EXPANDED REPERTOIRE OF Tat ACTIVITIES 217
VII. THE Rev TRANS-ACTIVATION PATHWAY 219
VIII. VIRAL PROTEINS 222
IX. CONCLUSIONS 227
References 227
Index 236