Synopses & Reviews
Medical Genetics at a Glance is a concise, well-illustrated and accessible genetics textbook. It follows the now familiar, easy-to-use, double page spread format of the
at a Glance series. Each double page presents clear, memorable diagrams that illustrate essential information.
Structured into three distinct sections, Medical Genetics at a Glance, takes the student through developmental biology, medical genetics and the clinical application of genetics. The first section focuses on basic biological concepts such as cell and chromosome structure, molecular biology and the cell cycle, as well as human embryonic development and sexual maturation. The second section applies these principles to medicine through the essential 'laws' of inheritance, the chromosome anomalies, multifactorial inheritance, normal polymorphism and gene frequency, then moving on to gene mapping, mutagenisis, cancer and immunogenetics. The final section addresses the clinical applications of these principles, incliding pedigree drawing and dysmorphology, prenatal sampling and biochemical diagnosis, diagnostic applications of cytogenetics and the human gene map, DNA sequencing, Southern blotting and PCR amplification, risk assessment and genetic counselling. DNA profiling, gene therapy, disease prevention and management.
Medical Genetics At A Glance is an ideal resource that fits the budget and reading time of medical students and those seeking a quick yet thorough, introduction to this fast moving field. It can be used as primary or supplementary reading in a lecture-based course and is perfect for exam preparation.
Review
'\"This book provides an extremely extensive introduction to the complexities of modern molecular and clinical genetics … This is a valuable addition to the teaching literature.\" (BMA Medical Book Competition - Programme and Award Winners, September 2008) '
Review
Pre-publication reviews‘Here is a contemporary account of genetic science and its many applications that I have not found elsewhere… Students of all ages complain to me that there is no accessible text that brings together all of this information in a concise form. Well their wait is over!’
Specialist Registrar in Clinical Genetics, Nottingham
‘My congratulations to the authors!’
PRHO, Aldershot
Post-Publication Reviews
NEW REVIEW -- PRITCHARD / Medical Genetics at a Glance. Blackwell Publishing, 2003, $24.95.
[AUTHOR]
Pritchard, Dorian J. , BSc, DIp Gen, PhD; Korf, Bruce R., MD, PhD
[BIBLIOGRAPHIC DATA]
Synopsis
The complex field of medical genetics is simplified in
Medical Genetics at a Glance, with important scientific principles and clinical material broken into bite-sized chapters. This popular introduction and revision aid covers the core scientific principles relevant to an understanding of medical genetics and the clinical applications of this knowledge by discussing common genetic anomalies and their significance in clinical practice. This edition contains increased clinical relevance and features:
- Consideration of the latest practical and philosophical aspects of medical genetics
- Full-colour illustrations to increase visual appeal
- Self-assessment cases to make revision more rewarding and illustrate clinical applications of genetics
- A popular and well structured approach to the molecular diagnostic techniques of modern genetics
- An international author team based in the UK and USA
Medical Genetics at a Glanceis an ideal introduction or concise, highly visual revision aid to genetics for medical students in the early years of their course, and for other students of molecular biology, genetics and genetic counselling.
About the Author
Dorian J. Pritchard,Former lecturer in Human Genetics, University of Newcastle-upon-Tyne, UK and Former Visiting Lecturer in Medical Genetics, International Medical University, Kuala Lumpur, Malaysia
Bruce R. Korf,Wayne H. and Sara Crews Finley Professor of Medical Genetics, Chairman, Department of Genetics, University of Alabama at Birmingham, USA
Table of Contents
Preface; Acknowledgements; Section I : Developmental Biology 1. Basic biology 2. The cell 3. The chromosomes 4. DNA structure 5. DNA replication 6. RNA structure 7. Production of messenger RNA 8. Protein synthesis 9. The cell cycle 10. Gametogenesis 11. Embryology
12. Sexual differentiation Section II: Medical Genetics 13. The place of genetics in medicine 14. Chromosomal aneuploidies 15. Chromosome structural abnormalities 16. Mendel’s laws 17. Autosomal dominant inheritance 18. Autosomal recessive inheritance 19. Intermediate inheritance 20. Sex-related inheritance 21. Congenital abnormalities 22. Multifactorial threshold traits 23. The common disorders of adult life 24. Twin Studies 25. Normal polymorphism 26 Allele frequency 27. Genetic linkage and disease association 28. Gene Mapping 29. Mutagenesis and DNA repair 30. Mutations 31. The molecular biology of cancer 32. Familial cancers 33. Immunogenetics Section III: Clinical Genetics 34 Overview of clinical genetics 35. Pedigree drawing 36. Risk Assessment 37. Dysmorphology 38. Reproductive Genetic Counselling 39. Avoidance and prevention of disease 40. The management of genetic disease 41. Prenatal sampling 42. Biochemical diagnosis 43. Chromosome analysis 44. Linkage analysis 45. DNA sequencing 46. Southern Blotting 47. The polymerase chain reaction (PCR) 48. DNA profiling Appendix: Information resources & recommended reading Glossary Index