Ebook Human Molecular Genetics (2nd Edition) By Peter Sudbery

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Human Molecular Genetics (2nd Edition) By Peter Sudbery

Ebook Human Molecular Genetics (2nd Edition) By Peter Sudbery

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Sales Rank: #1933245 in Books
Published on: 2002-12-20
Original language: English
Number of items: 1
Dimensions: 9.20" h x .79" w x 6.11" l, 1.33 pounds
Binding: Paperback
388 pages

From the Back Cover

This second edition of Human Molecular Genetics continues to provide a clear introduction to this complex and fast moving field. Now updated and revised throughout, the material covered has been carefully selected and structured to provide a concise overview for students studying the subject as part of a general biology, genetics or medical degree. A milestone in science has been reached through the publication of draft sequences of the human genome and this is reflected in changes to the book. A new chapter details the methodology used, what was revealed about genome structure and evolution and how the genome sequence will be exploited in diagnosing and treating common diseases. The chapter on complex diseases has also been completely rewritten to reflect new strategies for searching for the genes involved in such disorders. Finally, the human genome project has opened up new prospects in population genetics and evolution and these are discussed in a rewritten chapter. Features * Concise, up-to-date introduction to the subject * New chapters on sequencing and structure of the human genome* New chapter on complex disorders, including population surveys using SNPs * Fully revised chapter on human population genetics and evolution* Boxed case studies and techniques
* Includes important genetic disorders and genetic counselling
* References updated through a linked Web site. The text is aimed at courses in Human Genetics, Human Molecular Genetics and The Molecular Basis of Disease taught within Biology, Biochemistry, Biomolecular Sciences, Biomedical Sciences, Genetics and medical and other health-care degrees. Peter Sudbery is Senior Lecturer in Genetics at the Department of Molecular Biology and Biotechnology at the University of Sheffield.

The Cell and Molecular Biology series provides introductions to key, exciting areas of cell and molecular biology, stimulating student's imaginations and initiative to bridge the gap between memorising concepts and the active approach needed for research and literature review projects. This active learning series also introduces students to experimental design and information retrieval and analysis, including exploration of the World Wide Web.

About the Author

Peter Sudbery is Senior Lecturer in Genetics at the Department of Molecular Biology and Biotechnology at the University of Sheffield.

This book is intended to provide an introduction to human molecular genetics that is more focused and up-to-date than that found in large, general textbooks on genetics, and yet remains accessible to second- and third-year science undergraduates, medical students and other health-care specialists. It assumes the background knowledge of genetics and molecular biology that would normally be taught in the first year of a university course. Not only is this a necessity to keep both the size and cost down, but it also seems futile to duplicate the coverage in the generous selection of excellent general textbooks to which most readers will have access. Each chapter ends with a list of further reading for those who would like to investigate a topic in more detail. For the most part the references are also the sources for most of the material presented in the chapter. For a more detailed and comprehensive treatment I also recommend the excellent textbook by Professors Strachan and Read, now also in its second edition (Strachan, T and Read, A.P. (eds) (1999) Human Molecular Genetics, 2nd edn, Bios Scientific Publishers, Oxford).

An introductory text to such a large and complex field must restrict itself to illustrating general principles with selected examples. Inevitably work on many important genes must be omitted, and I can only apologise to those who feel their favourite gene has not received the attention it deserves. Equally, a certain amount of simplification is essential to make it accessible to an undergraduate audience. This is particularly true of those areas such as population genetics that are mathematically based, which experience shows can be a cause of difficulty to biology students. I can only hope that I have succeeded in spreading enlightenment without oversimplifying.

Since the first edition of this book was written in 1997 there have been several major advances. In 1997 the mapping phase of the human genome project was largely complete but sequencing had barely begun. Now not one, but two draft sequences have been produced and analysed. There still remains much to do in this area, including filling the gaps and identifying the genes, but it is clear that a major scientific milestone has been passed. In terms of this book the genome sequence has moved to centre stage and I have written a completely new chapter detailing the methodology used, what was revealed about genome structure and evolution and how the genome sequence will be exploited in diagnosing and treating common diseases. The analysis of genome structure from the sequence itself presented the dilemma of whether to retain a chapter introducing this topic. In principle, a desciption of genome sequencing could have been followed by a definitive account of genome structure. The problem was that knowledge of genome structure is necessary to understand the sequencing methodology. Because of this I elected to retain the introductory chapter at the cost of a certain amount of duplication between Chapters 2 and 4. Where genome statistics are used in Chapter 2, they have been taken from the analysis of the draft genome.

The strategies used in searching for genes involved in complex disease has also undergone a paradigm shift since the first edition was written. Previously, attention was focused on non-parametric genome scans of affected sib pairs using polymorphic microsatellites. Current strategies are based on population surveys using SNPs. Because of this I have also completely rewritten the chapter on complex disease. Of course, there have been many false dawns in this field. I have endeavoured to provide a balance between an appreciation of the difficulties and complexities of this area and the exciting prospects afforded by the new technologies.

Lastly, the human genome project opens up new prospects in population genetics and evolution. This area remains crucial in informing the design of population surveys to map complex disease alleles. It also focuses on the fascinating fundamental issue of the evolution of modern humans and the history of past population movements. Central to this field is the tierce debate between the proponents of the Out-of-Africa versus Multiregional theories of human origin. I have also rewritten this chapter in the light of new developments.

The rest of the book has been revised and updated throughout, while keeping the basic structure of the chapters in the first edition.

I am grateful for the tolerance and support of those around me while preparing this second edition, particularly my wife Carol. I much appreciate the rapid and detailed reading of draft versions of Chapters 4 and 6 by John Amour (University of Nottingham) and Keith Brown (University of Bristol) respectively; of course all deficiencies that remain are entirely my own responsibility. Anne Dalton, Steve Evans and Richard Kirk (North Trent Molecular Genetics Laboratory) generously provided examples of their work. Finally I am grateful to the staff at Pearson Education, particularly Alex Seabrook and Pauline Gillett, for their help and support.

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