Human Genetics

Human Genetics 2e begins by describing basic human genetics, introduces the variety of techniques available for disease diagnosis and details how these are used in the lab, before concluding with information on prenatal diagnosis, genetic counselling and ethical considerations. As such, the book is the ideal handbook for biomedical science students and for anyone working in a diagnostic genetics lab.
This new edition has been comprehensively rewritten to take into account the major changes in recent years, particularly with regard to human molecular genetics:

* greater coverage of recently identified genes and their role in disease
* updated to include an expanded section on breast cancer
* expanded description of epigenetics including methylation and acetylation
* updated to include all the latest diagnostic tools: QF-PCR, MLPA, RT-PCR, microarrays, etc.
* more on the impact of genetics on society; ethics and dilemmas
* full colour photographs have been included to allow readers to see real laboratory results

If you need to know the difference between SNPs and CNVs, when to use QF–PCR or microarrays, or wondered which screening method to use for mutation detection, then you need to read this book.

Review:
"This revised edition of Human Genetics covers an impressive variety of topics within the field, and would certainly be suitable for an audience ranging from basic science undergraduates to people working within genetics in the medical profession...The material in this book is clearly laid out, and provides a comprehensive overview of the subject. The explicit list of learning objectives at the start of each chapter will be valued by students and teachers alike, and the explanatory sentence or two after each one provides a quick reference to the key take-home messages. Within the text, important facts and definitions are highlighted in boxes, and reinforced by straightforward and logical figures. The authors acknowledge that this is an introductory text, but also provide key references to further reading, enabling readers to easily expand their knowledge in specific areas of interest, yet achieving a fundamental grasp of the areas being presented. This further reading, along with the incredibly valuable self-assessment questions, will allow students to identify and address the limits of their knowledge.
The emphasis on genetic disorders throughout the book will make it relevant to those studying the science of human genetics, but also to medical students throughout their studies. The glossary of disorders at the end of the book provides an excellent quick reference point, and the comprehensive list of internet sites directs the reader to many other well recognised resources for further information. In the age of information overload via the internet, such a list is incredibly valuable for helping students assess the quality of the information they are retrieving from online sources...This book will appeal to anyone with an interest in human genetics, particularly those approaching the subject from the point of view of a diagnostic laboratory."
Dr Sally Chappell, IJMEG, April 2010

Contents

1 Organization of DNA
2 How normal genes work
3 Mechanisms of disease
4 Patterns of inheritance
5 Cytogenetics
6 Molecular cytogenetics
7 Molecular genetics
8 Cancer genetics
9 Prenatal diagnosis and screening
10 Genetic counselling and genetics and society
Answers to self-assessment questions
Appendices
Index

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