Genetic Polymorphisms and Susceptibility to Disease PDF
Preview Genetic Polymorphisms and Susceptibility to Disease
GENETIC POLYMORPHISMS AND SUSCEPTIBILITY TO DISEASE GENETIC POLYMORPHISMS AND SUSCEPTIBILITY TO DISEASE Edited by M.S. Miller Wake Forest University School of Medicine, NC, USA M.T. Cronin A CLARA Biosciences Inc., CA, USA Boca Raton London New York CRC Press is an imprint of the Taylor & Francis Group, an informa business A TAYLOR & FRANCIS BOOK First published 2000 by Taylor & Francis Published 2018 by CRC Press Taylor & Francis Group 6000 Broken Sound Parkway NW, Suite 300 Boca Raton, FL 33487-2742 © 2000 by Taylor & Francis Group, LLC CRC Press is an imprint of Taylor & Francis Group, an Informa business No claim to original U.S. Government works ISBN 13: 978-0-7484-0822-1 (hbk) This book contains information obtained from authentic and highly regarded sources. Reason-able efforts have been made to publish reliable data and information, but the author and publisher cannot assume responsibility for the validity of all materials or the consequences of their use. 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In the case of drug administration, any medical procedure or the use of technical equipment mentioned within this book, you are strongly advised to consult the manufacturer's guidelines. British Library Cataloguing in Publication Data A catalogue record for this book is available from the British Library. Library of Congress Cataloging in Publication Data A catalog record for this book has been requested. To the people we love, who make our lives fun and interesting: our spouses, Helen Miller and Jim Cronin, and our children, Matthew and Adam Miller, and Daniel, Thomas, and Peter Cronin. Thanks for your love, your support, and being there even when the grants didn’t get funded or the patents didn’t go through. Mark and Maureen CONTENTS Contributors ix Preface xi 1 Techniques for identifying genetic polymorphisms: an historical perspective 1 PETER J. WEDLUND 2 PCR: methods and limitations 17 WILLIAM B. MATTES AND MARK S. MILLER 3 DNA oligonucleotide microarrays: application to genetic polymorphism analysis 41 MAUREEN T. CRONIN 4 Bioinformatics - genetics sites on the World Wide Web 67 MARK O. LIVELY 5 Cancer susceptibility genes 89 KEITH W. CRAWFORD AND PETER G. SHIELDS 6 Steroid and nuclear receptor polymorphism variants in hormone resistance and hormone independence 109 TORSTEN A. HOPP AND SUZANNE A.W. FUQUA 7 Variation in genes regulating the immune system and relationship to disease 139 ANN B. BEGOVICH AND JORGE R. OKSENBERG 8 Polymorphisms in heart disease 175 R. MARK PAYNE 9 Genetic polymorphisms in the mitochondrial genome 207 GERARD T. BERRY AND PAOLO FORTINA 10 Genetic polymorphisms affecting nervous system function 231 SUSAN M. MOCKUS AND KENT E. VRANA Index 257 vii CONTRIBUTORS Ann B. Begovich, Ph.D., Research Leader, Department of Human Genetics, Roche Molecular Systems, Alameda, CA, USA Gerard T. Berry, M.D., Professor of Pediatrics, Division of Biochemical Development and Molecular Diseases, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA Keith W. Crawford, Ph.D., Assistant Professor, Department of Pharmacology, College of Medicine, Howard University, Washington, D.C., USA Maureen T. Cronin, Ph.D., Director, Genomics Applications, ACLARA Biosciences Inc., Mountain View, CA, USA Paolo Fortina, M.D., Associate Professor of Pediatrics, Division of Hematology, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA Suzanne A. W. Fuqua, Ph.D., Professor of Medicine, Breast Center, Baylor College of Medicine, Houston, TX, USA Torsten A. Hopp, Ph.D., Postdoctoral Fellow, Breast Center, Baylor College of Medicine, Houston, TX, USA Mark O. Lively, Ph.D., Professor of Biochemistry, Molecular Genetics Program, Wake Forest University School of Medicine, Winston-Salem, NC, USA William B. Mattes, Ph.D., Senior Scientist, Investigative/Genetic Toxicology, Pharmacia & Upjohn, Kalamazoo, MI, USA Mark S. Miller, Ph.D., Associate Professor, Department of Cancer Biology, Comprehensive Cancer Center, Wake Forest University School of Medicine, Winston-Salem, NC, USA Susan M. Mockus, Ph.D., Postdoctoral Fellow, Department of Pharmacology, University of Washington, Seattle, Washington, USA Jorge R. Oksenberg, Ph.D., Assistant Professor, Department of Neurology, School of Medicine, University of California at San Francisco, CA, USA IX
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