Molecular Genetic Medicine

School of Medicine, University of California at San Diego, USA

Contributors
Preface
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
References
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 Males
V. 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
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 Challenges
References
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
References
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
References
6 Molecular Analysis off Mutation in the Human Gene for Hypoxanthine Phosphoribosyltransferase
I. 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
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 Genes
V. The Tat Trans-Activation Pathway
VI. Expanded Repertoire of Tat Activities
VII. The Rev Trans-Activation Pathway
VIII. Viral Proteins
IX. Conclusions
References
Index