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.

An Introduction to Human Molecular GeneticsSecond EditionJack J. PasternakThe Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a uniquesystems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomicsproteomics, and microarray technology have been thoroughlyincorporated into the text.The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eyecancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material.Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including:* New chapters on complex genetic disorders, genomic imprintingand human population genetics* Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatmentsThis text is targeted at upper-level undergraduate studentsgraduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Preface xviiPreface to the First Edition xixChapter 1 Understanding Human Disease 1Chapter 2 The Genetic System: Chromosomes 19Chapter 3 The Genetic System: Mendel's Laws of Inheritance and Genetic Linkage 37Chapter 4 The Molecular Biology of the Gene 75Chapter 5 Recombinant DNA Technology 107Chapter 6 Genetic and Physical Mapping of the Human Genome 153Chapter 7 Discovering Human Disease Genes 189Chapter 8 Bioinformatics: Genomics, Functional Genomics, and Proteomics 203Chapter 9 Human Population Genetics 229Chapter 10 Molecular Genetics of Complex Disorders 295Chapter 11 Genomic Imprinting: An Epigenetic Modification 333Chapter 12 Molecular Genetics of Mitochondrial Disorders 349Chapter 13 Molecular Genetics of Muscle Disorders 369Chapter 14 Molecular Genetics of Neurological Disorders 393Chapter 15 Molecular Genetics of the Eye 439Chapter 16 Molecular Genetics of Cancer Syndromes 471Chapter 17 Counseling, Diagnostic Testing, and Management of Genetic Disorders 517Glossary 557Index 597