Friedmann Molecular Genetic Medicine

Volume 2
1. Auflage 2013
ISBN: 978-1-4832-6187-4
Verlag: Elsevier Science & Techn.
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 246 Seiten, Web PDF

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 to the thalassemias, among the most common and severe of all human genetic diseases. Separate chapters follow covering the history and current state of the fragile X syndrome; the mechanisms of hepatitis B viral gene expression, its relation to liver cancer, and its prevention; and molecular genetics of Down syndrome. Subsequent chapters deal with mammalian X chromosome inactivation; the use of the human hprt locus as a model system for analyzing mutation in human cells in vivo; and the regulatory genes and factors that govern virus replication of HIV-1.

Autoren/Hrsg.

Friedmann, Theodore

Inhaltsverzeichnis

1;Front Cover;1
2;Molecular Genetic Medicine;4
3;Copyright Page;5
4;Table of Contents;6
5;Contributors;10
6;Preface;12
7;Chapter 1.
The Impact of Molecular Biology on the Diagnosis and Treatment of Hemoglobin Disorders;16
7.1;I. DISEASES OF HEMOGLOBIN;16
7.2;II. GLOBIN GENE ORGANIZATION;17
7.3;III. CONTROL OF GLOBIN GENE EXPRESSION;20
7.4;IV. THALASSEMIAS;31
7.5;V. HEMOGLOBINOPATHIES;36
7.6;VI. ANALYSIS OF GLOBIN GENE FUNCTION;38
7.7;VII. SWITCHING;40
7.8;VIII. GENE THERAPY;42
7.9;Acknowledgments;45
7.10;References;45
8;Chapter 2.
The fragile X Syndrome;54
8.1;I. INTRODUCTION;54
8.2;II. HISTORY OF THE FRAGILE X SYNDROME;55
8.3;III. EPIDEMIOLOGY OF FRAGILE X SYNDROME;56
8.4;IV. FEATURES OF AFFECTED AND TRANSMITTING MALES;57
8.5;V. THE ASSOCIATION OF FRAGILE X AND AUTISM;61
8.6;VI. CARRIER FEMALES;62
8.7;VII. CYTOGENETICS OF THE FRAGILE X SYNDROME;62
8.8;VIII. TREATMENT;64
8.9;IX. PRENATAL DIAGNOSIS;65
8.10;X. DNA MOLECULAR MARKERS;65
8.11;XI. THEORIES REGARDING THE NATURE OF THE fra(X) MUTATION;71
8.12;XII. APPROACHES TO DEFINE THE NATURE OF THE MUTATION;72
8.13;XIII. CONCLUSIONS;74
8.14;References;75
9;Chapter 3.
Hepatitis B Virus Biology and Pathogenesis;82
9.1;I. OVERVIEW OF THE PROBLEM;82
9.2;II. DISCOVERY OF THE VIRUS;83
9.3;III. GENETIC ORGANIZATION OF THE HBV GENOME;87
9.4;IV. VIRAL MORPHOGENESIS;91
9.5;V. HEPATOCELLULAR CARCINOMA;98
9.6;VI. FUTURE PROSPECTS, OPPORTUNITIES, AND CHALLENGES;107
9.7;References;108
10;Chapter 4. The Molecular Genetics of Down Syndrome;120
10.1;I. INTRODUCTION;120
10.2;II. GENE DOSAGE EFFECTS;121
10.3;III. MOLECULAR DEFINITION OF THE DS REGION OF HSA-21;125
10.4;IV. ANIMAL MODELS OF DOWN SYNDROME;127
10.5;V. SUMMARY;132
10.6;Acknowledgments;132
10.7;References;132
11;Chapter 5. Mammalian X Chromosome Inactivation;136
11.1;I. INTRODUCTION;136
11.2;II. INITIATION OF X INACTIVATION;141
11.3;III. SPREADING OF THE X INACTIVATION SIGNAL;148
11.4;IV. MAINTENANCE OF X INACTIVATION;152
11.5;V. PERSPECTIVES;164
11.6;Acknowledgments;165
11.7;References;165
12;Chapter 6. Molecular Analysis of Mutation in the Human Gene for Hypoxanthine Phosphoribosyltransferase;176
12.1;I. INTRODUCTION;176
12.2;II. THE HPRT ENZYME AND CLINICAL FEATURES OF HPRT DEFICIENCY;177
12.3;III. LOCALIZATION, STRUCTURE, AND EXPRESSION OF THE hprt GENE;179
12.4;IV. GERM-LINE MUTATIONS IN HPRT-DEFICIENT PATIENTS;182
12.5;V. SOMATIC hprt MUTATIONS;186
12.6;VI. CONSIDERATIONS ABOUT THE SOMATIC AND GERM-LINE MUTATIONAL SPECTRA IN THE HUMAN hprt GENE;193
12.7;References;200
13;Chapter 7. Regulatory Genes of Human Immunodeficiency Viruses;204
13.1;I. INTRODUCTION;204
13.2;II. RETROVIRUS LIFE CYCLE;205
13.3;III. COUPLING OF VIRUS REPLICATION TO CELL CYCLE AND ACTIVATION;206
13.4;IV. HIV REGULATORY GENES;209
13.5;V. THE Tat TRANS-ACTIVATION PATHWAY;209
13.6;VI. EXPANDED REPERTOIRE OF Tat ACTIVITIES;217
13.7;VII. THE Rev TRANS-ACTIVATION PATHWAY;219
13.8;VIII. VIRAL PROTEINS;222
13.9;IX. CONCLUSIONS;227
13.10;References;227
14;Index;236