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This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions.A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice.Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics.Key learning features include: Clinical snapshots to help relate science to practice'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments'Sources of information' boxes to assist with the practicalities of clinical research and information provisionSelf-assessment review questions in each chapterAccompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparationInteractive Multiple Choice Questions (MCQs) with feedback on all answersLinks to online resources for further studyFigures from the book available as PowerPoint slides, ideal for teaching purposesThe perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Bruce R. Korf is Wayne H. and Sara Crews Finley Chair in Medical Genetics, Professor and Chair, Department of Genetics, and Director, Heflin Center for Genomic Sciences, at the University of Alabama at Birmingham. Mira B. Irons is Park Gerald Chair in Genetics and Associate Chief, Division of Genetics, at the Children's Hospital Boston, and Associate Professor of Pediatrics at Harvard Medical School.
Preface viiHow to get the best out of your textbook viiiPART ONE: BASIC PRINCIPLES OF HUMAN GENETICS 11 DNA Structure and Function 32 Genetic Variation 203 Patterns of Inheritance 384 The Human Genome 645 Multifactorial Inheritance 876 Cell Division and Chromosomes 1007 Population Genetics 1258 Cancer Genetics 137PART TWO: GENETICS AND GENOMICS IN MEDICAL PRACTICE 1559 Chromosome Translocation 15710 Molecular Diagnosis 17111 Newborn Screening 18212 Developmental Genetics 19413 Carrier Screening 20314 Genetic Risk Assessment 21315 Genetic Testing for Risk of Cancer 22216 Pharmacogenetics 23017 Treatment of Genetic Disorders 239Answers to Review Questions 248Glossary 253Index 262
Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, USA) Pyeritz, Reed E. (William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA) Korf, Bruce R. (Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL
Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, USA) Pyeritz, Reed E. (William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA) Korf, Bruce R. (Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL
Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, USA) Pyeritz, Reed E. (William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA) Korf, Bruce R. (Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL
Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, USA) Pyeritz, Reed E. (William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA) Korf, Bruce R. (Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL