The idea for this book grew from two earlier efforts, The Human Genome (TS; BIOS Scientific Publishers, 1992) and Medical Genetics, an Illustrated Outline (APR; Gower Medical Publishing, 1989). In these small books we tried to develop a treatment of human genetics based on understanding the structure and function of the normal human genome. Traditionally, textbooks of human genetics tended to start by considering meiosis and the way diseases segregate in pedigrees, whilst textbooks of molecular genetics rarely emphasized human topics. Until recently this was inevitable because so little was understood about the normal human genome. The Human Genome Project has changed all that, and the present book is an attempt to provide a comprehensive integrated study of human molecular genetics.
It would be hard to overstate the importance for biomedical science of the Human Genome Project. As the first ‘big science' project in biology, it forms the focus for a mass collective effort by thousands of researchers world-wide to move our understanding of biology on to a new plane. Human molecular genetics not only forms the cutting edge of biomedical research, but at the same time it has immediate application to the diagnosis of disease and has great potential for treating disease. Thus it is of major interest to all students of biological science and medicine, and to a wide range of biomedical researchers.
Human molecular genetics is a large subject. We have tried to make it more digestible by organizing the text into clearly demarcated sections, using statement headings to define what the reader can find in each section, and identifying important new terms by bold typeface (most of which, apart from basic terms, can be found in the Glossary). The first section (Chapters 1–3) provides introductory-level material on DNA, chromosomes and pedigree patterns but the second section (Chapters 4–6), which describes general principles and applications of cloning and molecular hybridization, contains some advanced examples. The third section (Chapters 7–10) is the one which we believe truly distinguishes this book from the others, and provides a comprehensive guide to the structure, function, evolution and mutational instability of the human genome and human genes. It provides a solid base for relating the subsequent sections on mapping the human genome (Chapters 11–13), studying human genetic diseases (Chapters 14–18), and dissecting and manipulating genes (Chapters 19 and 20).
Currently, the pace of research in this field is extremely rapid, and new information and insights are pouring out of the laboratories at an almost unimaginable rate. At the time of writing, new partial human gene sequences (expressed sequence tags) are being added to the databases at a rate of 8000 per week. To cope with this flood, students need two tools: a good framework of principles and the ability to use modern informatics. One of our aims has been to encourage students to use the wonderful genetic resources available on the Internet (in particular, we have provided accession numbers for the OMIM online database for genetic diseases, rather than listing references).
Revolutionary times are nothing if not exciting. We have tried to convey the feel of fast-moving research, while providing a description in some depth of the techniques and data that are helping us to understand the evolution, nature and function of our genome. This book will have succeeded if readers finish it sharing our excitement and enthusiasm for the continuing voyage of discovery into our DNA. The journey is far from finished.
Tom Strachan and Andrew P. Readtop link
Preface to the second edition
We were gratified by the favorable reception given to the first edition, and we thank the many people who wrote pointing out errors or making suggestions. Inevitably we could not incorporate every good suggestion into this new edition without an unacceptable increase in length. As we enter the new Millennium, the pace of change in human genetics continues to accelerate. As before, we expect readers to use the Internet as the main source of factual detail, and we have included a new preliminary section to reinforce this message. We have concentrated in our text on the principles rather than the details, but we hope that the comprehensive index (which now has a new Disease Index prefacing the standard index) will give readers quick access to the factual information that is used to illustrate the principles. Apart from general revision and updating, and some rearrangement of material, there are new chapters on gene expression and on analysis of complex diseases, reflecting the increasing importance of these topics in human molecular genetics. To assist teachers, a problem book linked to this text is in preparation, and all original illustrations are freely available in downloadable form from the BIOS website (http://www.bios.co.uk ).
We thank Meryl Lusher for research assistance and help with proof reading; Jolene Blench, Rona Mayall, Leanne Morrison, and Margaret Weddle for secretarial assistance; Jenny Barrett, Nick Lemoine, Nalin Thakker, David Cooper and Andrew Wallace for commenting on drafts; many colleagues for providing material for illustrations; Applied Imaging and PE Biosystems for sponsorship of some color illustrations; Affymetrix, Inc. (Santa Clara, CA) for supplying several color images; and Fran Kingston, Lisa Mansell, Jonathan Ray and their team at BIOS Scientific Publishers for their hard work and understanding. Finally, we owe a great debt to our long-suffering wives and families and so thank you yet again, Meryl, Alex, James and Gilly for being so understanding.
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It would be hard to overstate the importance for biomedical science of the Human Genome Project. As the first ‘big science' project in biology, it forms the focus for a mass collective effort by thousands of researchers world-wide to move our understanding of biology on to a new plane. Human molecular genetics not only forms the cutting edge of biomedical research, but at the same time it has immediate application to the diagnosis of disease and has great potential for treating disease. Thus it is of major interest to all students of biological science and medicine, and to a wide range of biomedical researchers.
Human molecular genetics is a large subject. We have tried to make it more digestible by organizing the text into clearly demarcated sections, using statement headings to define what the reader can find in each section, and identifying important new terms by bold typeface (most of which, apart from basic terms, can be found in the Glossary). The first section (Chapters 1–3) provides introductory-level material on DNA, chromosomes and pedigree patterns but the second section (Chapters 4–6), which describes general principles and applications of cloning and molecular hybridization, contains some advanced examples. The third section (Chapters 7–10) is the one which we believe truly distinguishes this book from the others, and provides a comprehensive guide to the structure, function, evolution and mutational instability of the human genome and human genes. It provides a solid base for relating the subsequent sections on mapping the human genome (Chapters 11–13), studying human genetic diseases (Chapters 14–18), and dissecting and manipulating genes (Chapters 19 and 20).
Currently, the pace of research in this field is extremely rapid, and new information and insights are pouring out of the laboratories at an almost unimaginable rate. At the time of writing, new partial human gene sequences (expressed sequence tags) are being added to the databases at a rate of 8000 per week. To cope with this flood, students need two tools: a good framework of principles and the ability to use modern informatics. One of our aims has been to encourage students to use the wonderful genetic resources available on the Internet (in particular, we have provided accession numbers for the OMIM online database for genetic diseases, rather than listing references).
Revolutionary times are nothing if not exciting. We have tried to convey the feel of fast-moving research, while providing a description in some depth of the techniques and data that are helping us to understand the evolution, nature and function of our genome. This book will have succeeded if readers finish it sharing our excitement and enthusiasm for the continuing voyage of discovery into our DNA. The journey is far from finished.
Tom Strachan and Andrew P. Readtop link
Preface to the second edition
We were gratified by the favorable reception given to the first edition, and we thank the many people who wrote pointing out errors or making suggestions. Inevitably we could not incorporate every good suggestion into this new edition without an unacceptable increase in length. As we enter the new Millennium, the pace of change in human genetics continues to accelerate. As before, we expect readers to use the Internet as the main source of factual detail, and we have included a new preliminary section to reinforce this message. We have concentrated in our text on the principles rather than the details, but we hope that the comprehensive index (which now has a new Disease Index prefacing the standard index) will give readers quick access to the factual information that is used to illustrate the principles. Apart from general revision and updating, and some rearrangement of material, there are new chapters on gene expression and on analysis of complex diseases, reflecting the increasing importance of these topics in human molecular genetics. To assist teachers, a problem book linked to this text is in preparation, and all original illustrations are freely available in downloadable form from the BIOS website (http://www.bios.co.uk ).
We thank Meryl Lusher for research assistance and help with proof reading; Jolene Blench, Rona Mayall, Leanne Morrison, and Margaret Weddle for secretarial assistance; Jenny Barrett, Nick Lemoine, Nalin Thakker, David Cooper and Andrew Wallace for commenting on drafts; many colleagues for providing material for illustrations; Applied Imaging and PE Biosystems for sponsorship of some color illustrations; Affymetrix, Inc. (Santa Clara, CA) for supplying several color images; and Fran Kingston, Lisa Mansell, Jonathan Ray and their team at BIOS Scientific Publishers for their hard work and understanding. Finally, we owe a great debt to our long-suffering wives and families and so thank you yet again, Meryl, Alex, James and Gilly for being so understanding.
Link To Content
