COVID-19 Update: We are currently shipping orders daily. However, due to transit disruptions in some geographies, deliveries may be delayed. To provide all customers with timely access to content, we are offering 50% off Science and Technology Print & eBook bundle options. Terms & conditions.
Molecular Genetic Medicine - 1st Edition - ISBN: 9780124620025, 9781483261874

Molecular Genetic Medicine

1st Edition

Volume 2

Editor: Theodore Friedmann
eBook ISBN: 9781483261874
Imprint: Academic Press
Published Date: 1st April 1992
Page Count: 246
Sales tax will be calculated at check-out Price includes VAT/GST
Price includes VAT/GST

Institutional Subscription

Secure Checkout

Personal information is secured with SSL technology.

Free Shipping

Free global shipping
No minimum order.


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



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




No. of pages:
© Academic Press 1992
1st April 1992
Academic Press
eBook ISBN:

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

Ratings and Reviews