An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, 2nd Edition

An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, 2nd Edition by Jack J. Pasternak provides a comprehensive introduction to the molecular genetics of inherited human diseases. Published by Wiley-Liss, this 672-page edition combines fundamental genetics with modern molecular techniques and clinically relevant applications, making it suitable for students, researchers, and healthcare professionals seeking a deeper understanding of genetic disease.

The Second Edition expands the original text with developments in functional genomics, proteomics, microarray technology, clinical genetics, and the study of complex genetic disorders. Using a systems-based approach, the book explains how genes are discovered, mapped, isolated, and linked to inherited disorders affecting different organ and tissue systems.

About the Book

The book begins with the foundations of cytogenetics and Mendelian genetics, establishing the principles needed to understand human inheritance and genetic disease. It then progresses into molecular approaches for investigating genes and their relationship to disease.

A major strength of the book is its clear explanation of the gene discovery process and the strategies used to identify genetic defects associated with inherited disorders. Figures and diagrams throughout the text help clarify complex genetic and molecular concepts.

Gene Mapping and Molecular Genetics

Understanding how a disease-associated gene is located and identified is a central part of human molecular genetics. The book provides detailed coverage of genetic mapping and examines techniques used for gene manipulation, mapping, and isolation.

These topics give readers insight into how researchers move from an inherited phenotype to the identification and characterization of the underlying genetic defect.

Functional Genomics, Proteomics, and Microarrays

The Second Edition incorporates important developments in modern molecular biology, including functional genomics, proteomics, and microarray technology. These approaches have expanded the ability of researchers to investigate gene function, protein expression, and patterns of genetic activity associated with disease.

Their inclusion helps connect traditional human genetics with the technologies increasingly used in contemporary biomedical research.

Molecular Genetics of Inherited Diseases

A distinctive feature of the book is its systems-based examination of inherited disorders. Rather than treating genetic disease only as a collection of individual conditions, it considers molecular genetics across major biological systems.

The book provides focused coverage of disorders involving:

• Muscle
• Neurological systems
• The eye
• Cancer
• Mitochondria

This organization helps readers understand how genetic abnormalities can produce different disease mechanisms depending on the biological system affected.

Complex Genetic Disorders and Population Genetics

The Second Edition introduces new chapters addressing complex genetic disorders, genomic imprinting, and human population genetics. These topics expand the discussion beyond classical Mendelian inheritance and introduce important concepts involved in more complicated patterns of genetic variation and disease.

The broader coverage provides students with a more complete view of modern human genetics.

Clinical Genetics and Genetic Testing

The book also contains an expanded and revised section on clinical genetics. It discusses diagnostic testing, molecular screening, and treatments, helping connect molecular discoveries with their practical clinical applications.

This clinical perspective is particularly valuable for medical students, physicians, and researchers who need to understand how molecular genetic information can contribute to diagnosis and patient care.

Who Should Use This Book?

This book may be particularly useful for:

• Upper-level undergraduate students
• Graduate students
• Medical students
• Human genetics students
• Molecular biology students and researchers
• Clinical genetics researchers
• Physicians seeking a molecular genetics reference
• Biomedical researchers studying inherited diseases

Final Thoughts

An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, 2nd Edition offers a comprehensive and clinically relevant introduction to the molecular foundations of inherited human disease. Its systems-based approach connects cytogenetics and Mendelian genetics with gene mapping, molecular techniques, functional genomics, proteomics, and clinical genetics.

With expanded coverage of complex genetic disorders, genomic imprinting, population genetics, diagnostic testing, and molecular screening, this edition provides a valuable foundation for understanding how genetic discoveries translate into the study and management of inherited disease.

Book Information

Title: An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases
Author: Jack J. Pasternak
Publisher: Wiley-Liss
Publication Date: June 3, 2005
Edition: 2nd
Language: English
Print Length: 672 pages
ISBN-10: 0471474266
ISBN-13: 978-0471474265
Subjects: Human Genetics, Molecular Genetics, Genetic Diseases, Inherited Diseases, Cytogenetics, Mendelian Genetics, Gene Mapping, Gene Discovery, Functional Genomics, Proteomics, Microarray Technology, Clinical Genetics, Genetic Testing, Genomic Imprinting

A comprehensive guide to the molecular genetics of inherited human diseases, combining fundamental genetics, modern genomic technologies, and clinically relevant approaches to genetic diagnosis and disease mechanisms.