An Introduction to Human Molecular Genetics : Mechanisms of Inherited Diseases

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. Textbook format w/chpt. summaries, review questions; richly illust., reviews genetic system & Mendel's law; mapping; etc Front Cover Title Page Copyright Page Dedication Page Contents Preface Preface to the First Edition Acknowledgments Chapter 1. Understanding Human Disease Chapter 2. The Genetic System: Chromosomes Chapter 3. The Genetic System: Mendel’s Laws of Inheritance and Genetic Linkage Chapter 4. The Molecular Biology of the Gene Chapter 5. Recombinant DNA Technology Chapter 6. Genetic and Physical Mapping of the Human Genome Chapter 7. Discovering Human Disease Genes Chapter 8. Bioinformatics: Genomics, Functional Genomics, and Proteomics Chapter 9. Human Population Genetics Chapter 10. Molecular Genetics of Complex Disorders Chapter 11. Genomic Imprinting: An Epigenetic Modification Chapter 12. Molecular Genetics of Mitochondrial Disorders Chapter 13. Molecular Genetics of Muscle Disorders Chapter 14. Molecular Genetics of Neurological Disorders Chapter 15. Molecular Genetics of the Eye Chapter 16. Molecular Genetics of Cancer Syndromes Chapter 17. Counseling, Diagnostic Testing, and Management of Genetic Disorders Glossary Index Colour Plates "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." "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."--Jacket.