Genetic Polymorphisms and Susceptibility to Disease

279 Pages·2000·28.208 MB·\279

by  Mark Steven Miller (Editor), Maureen Cronin (Editor)

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
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First published 2000 by Taylor & Francis
Published 2018 by CRC Press
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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