Introduction to Human Molecular Genetics (eBook)

Dr. Jack J. Pasternak received his Ph.D. from Indiana University and is now Professor Emeritus at the University of Waterloo. He has authored or co-authored several textbooks, including Molecular Biotechnology: Principles and Applications of Recombinant DNA.

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 diseases...an 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)