Molecular Genetic Medicine

Molecular Genetic Medicine

Volume 2

1st Edition - April 1, 1992

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  • Editor: Theodore Friedmann
  • eBook ISBN: 9781483261874

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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.

Table of Contents

  • Contributors


    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


    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


    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


    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


    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


    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


    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



Product details

  • No. of pages: 246
  • Language: English
  • Copyright: © Academic Press 1992
  • Published: April 1, 1992
  • Imprint: Academic Press
  • eBook ISBN: 9781483261874

About the Editor

Theodore Friedmann

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

Affiliations and Expertise

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

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