Molecular Genetic Medicine

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