دانلود کتاب An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition

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.Content: Chapter 1 Understanding Human Disease (pages 1–18): Chapter 2 The Genetic System: Chromosomes (pages 19–36): Chapter 3 The Genetic System: Mendel's Laws of Inheritance and Genetic Linkage (pages 37–74): Chapter 4 The Molecular Biology of the Gene (pages 75–106): Chapter 5 Recombinant DNA Technology (pages 107–152): Chapter 6 Genetic and Physical Mapping of the Human Genome (pages 153–188): Chapter 7 Discovering Human Disease Genes (pages 189–202): Chapter 8 Bioinformatics: Genomics, Functional Genomics, and Proteomics (pages 203–228): Chapter 9 Human Population Genetics (pages 229–294): Chapter 10 Molecular Genetics of Complex Disorders (pages 295–331): Chapter 11 Genomic Imprinting: An Epigenetic Modification (pages 333–348): Chapter 12 Molecular Genetics of Mitochondrial Disorders (pages 349–368): Chapter 13 Molecular Genetics of Muscle Disorders (pages 369–392): Chapter 14 Molecular Genetics of Neurological Disorders (pages 393–437): Chapter 15 Molecular Genetics of the Eye (pages 439–470): Chapter 16 Molecular Genetics of Cancer Syndromes (pages 471–516): Chapter 17 Counseling, Diagnostic Testing, and Management of Genetic Disorders (pages 517–556):