Auteur : Young, Ian D.

Édition : 2nd edition

Maison d'édition : Oxford University Press

Date de publication : 2010

Collation : xi, 304 p. : ill.

ISBN : 9780199594610

Langue : Anglais

Table des matières : 1. Gene structure and function -- 2. Chromosomes and cell division -- 3. Common chromosome disorders -- 4. Single-gene (Mendelian) inheritance -- 5. Identifying genes for Medelian 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, drugs and treatment -- 13. Clinical skills and scenarios -- 14. Applied clinical genetics
Appendix 1 : Medical school core curriculum in genetics -- Appendix 2 : Teaching medical genetics to undergraduate medical students

Résumé : 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.

Mots-clés : Génétique médicale / Aberrations chromosomiques / Maladies génétiques

Cote : QZ 50 Y72m 2010