Medical Genetics

ISBN : 9780199594610

Ian D. Young
320 ページ
190 x 247 mm

Highly Commended in the 2006 BMA Medical Book Competition (Basic and clinical sciences) Medical Genetics provides medical and biomedical science students with an understanding of the basic principles of human genetics as they relate to clinical practice. Each of the initial chapters focuses on a traditional cornerstone of human genetics (molecular genetics, cytogenetics, Mendelian inheritance, polygenic inheritance, population genetics) with a major emphasis on clinical relevance. These are followed by consideration of subjects of specific medical importance such as the haemoglobinopathies, developmental genetics, cancer genetics and pharmacogenetics, with due attention to topical and evolving issues such as pharmacogenomics, gene therapy and therapeutic cloning. The final chapters provide an explanation of the genetically related clinical skills and competencies expected of a medical student, together with an overview of the principles of clinical genetics, a rapidly developing clinical specialty which now impinges on almost every aspect of medical practice. Online Resource Centre Medical Genetics is accompanied by an extensive Online Resource Centre, which offers a wealth of additional materials, including: * Multiple Choice Questions and Extended Matching Questions, to help you test your knowledge of each chapter of the book * Hyperlinked bibliography offering direct links to online articles cited in the book * Case Celebres: additional case celebres to those in the book * OMIM Database Links, providing hyperlinks to the NIH's database of genetic diseases * Pedigree Examples, giving guidance on constructing family trees * Bonus material from other seminal genetics titles published by Oxford University Press


1. Gene structure and function
2. Chromosomes and cell division
3. Common chromosome disorders
4. Single-gene (Mendelian) inheritance
5. Identifying genes for Mendelian diseases
6. Polygenic inheritance and complex diseases
7. Genes and populations
8. Genes and haemoglobin
9. Genes and development
10. Genes and cancer
11. Genes and biochemistry
12. Genes and drugs and treatment
13. Clinical skills and scenarios
14. Applied clinical genetics


Ian D Young, Consultant Clinical Geneticist, Department of Clinical Genetics, Leicester Royal Infirmary, UK