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



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

Jack J. Pasternak

ISBN: 978-0-471-71917-5 June 2005 656 Pages


An Introduction to Human Molecular Genetics
Second Edition
Jack J. Pasternak
The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text.
The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material.
Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including:
* New chapters on complex genetic disorders, genomic imprinting, and human population genetics
* Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments
This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.

Preface xvii

Preface to the First Edition xix

Chapter 1 Understanding Human Disease 1

Chapter 2 The Genetic System: Chromosomes 19

Chapter 3 The Genetic System: Mendel’s Laws of Inheritance and Genetic Linkage 37

Chapter 4 The Molecular Biology of the Gene 75

Chapter 5 Recombinant DNA Technology 107

Chapter 6 Genetic and Physical Mapping of the Human Genome 153

Chapter 7 Discovering Human Disease Genes 189

Chapter 8 Bioinformatics: Genomics, Functional Genomics, and Proteomics 203

Chapter 9 Human Population Genetics 229

Chapter 10 Molecular Genetics of Complex Disorders 295

Chapter 11 Genomic Imprinting: An Epigenetic Modification 333

Chapter 12 Molecular Genetics of Mitochondrial Disorders 349

Chapter 13 Molecular Genetics of Muscle Disorders 369

Chapter 14 Molecular Genetics of Neurological Disorders 393

Chapter 15 Molecular Genetics of the Eye 439

Chapter 16 Molecular Genetics of Cancer Syndromes 471

Chapter 17 Counseling, Diagnostic Testing, and Management of Genetic Disorders 517

Glossary 557

Index 597

"With over 600 pages, this book provides students and professionals in life sciences, pharmacy and biochemistry with all they need to know about molecular biotechnology." (NewsRx, 30 September 2011)

"...very readable...I would recommend this text to students studying human molecular genetics as well as those involved in their instruction." (American Journal of Medical Genetics, June 15, 2006)

"...tailor-made to address...[the] need for a textbook...more focused on the nature and characterization of common, classical genetic excellent book that will be applicable to a wide range of students." (The Quarterly Review of Biology, June 2006)

"An excellent course book or text to read for updating the established investigator." (American Journal of Therapeutics, March/April 2006)

"This book would make a worthy addition to any geneticist's library." (Clinical Chemistry, February 2006)

"The abundance of clearly presented information renders this textbook a chef d'oeuvre." (New England Journal of Medicine, January 5, 2006)