Table Of ContentELSEVIER’S INTEGRATED REVIEW
GENETICS
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ELSEVIER’S INTEGRATED REVIEW
GENETICS
SECOND EDITION
Linda R. Adkison, PhD
Professor of Genetics
Associate Dean for Curricular Affairs
Kansas City University of Medicine and Biosciences
Kansas City, Missouri
1600 John F. Kennedy Blvd.
Ste 1800
Philadelphia, PA 19103-2899
ELSEVIER’S INTEGRATED REVIEW GENETICS ISBN: 978-0-323-07448-3
Copyright © 2012, 2007 by Saunders, an imprint of Elsevier, Inc.
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Notices
Knowledge and best practice in this field are constantly changing. As new research and
experience broaden our understanding, changes in research methods, professional practices, or
medical treatment may become necessary.
Practitioners and researchers must always rely on their own experience and knowledge in
evaluating and using any information, methods, compounds, or experiments described herein. In
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Previous edition copyrighted 2007.
Library of Congress Cataloging-in-Publication Data
Adkison, Linda R.
Elsevier’s integrated review genetics / Linda R. Adkison.—2nd ed.
p. ; cm.—(Elsevier’s integrated series)
Integrated review genetics
Rev. ed. of: Elsevier’s integrated genetics / Linda R. Adkison, Michael D. Brown. c2007.
Includes bibliographical references and index.
ISBN 978-0-323-07448-3 (pbk. : alk. paper) 1. Medical genetics. I. Adkison, Linda R. Elsevier’s
integrated genetics. II. Title. III. Title: Integrated review genetics. IV. Series: Elsevier’s integrated
series.
[DNLM: 1. Genetics, Medical. QZ 50]
RB155.A2565 2012
616′.042—dc22 2011004253
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I have been fortunate to have excellent mentors during my career in academics. I have
learned a great deal about my own learning through this journey. My goals as a teacher
are to help students become challenged by the fascination of learning, visualize what
they cannot necessarily see, and describe what they see with integration of thought
broadly across disciplines. This textbook is dedicated to the many wonderful students
and colleagues who constantly challenge the boundaries of learning – theirs and mine.
Finally, without the support and understanding of my family, especially my children,
Emily and Seth, this project could not have been completed.
Linda R. Adkison, PhD
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Preface
Though the youngest of all the medical specialties, genetics explains better the morphologic variation observed in embry-
embodies the essence of all normal and abnormal develop- ologic development and anatomic presentation. It provides
ment and all normal and disease states. Perhaps because of better insight into susceptibility to infection and disease. It
its recent recognition as a discipline and perhaps because of offers insight into neurologic and behavioral abnormalities. It
its derivation from research in several areas, it is easier for is defining the strategies for gene therapy and pharmacoge-
genetics to be an “integrated” discipline. Approaching genet- nomics. For these reasons, it has been exciting to put this
ics as “a particular gene located on a specific chromosome book together.
and inherited in a specific manner” loses the appreciation of This text focuses on well-known and better described dis-
spatial and temporal dimensions of expression and the many, eases and disorders that students and practitioners are likely
many factors affecting every single aspect of development, to read about in other references. Many of these do not occur
survival, and even death. at a high frequency in populations, but they underscore major
Every medical discipline is connected to human well-being mechanisms and major concepts associated with many other
through the mechanisms of gene expression, environmental medical situations. It is my hope that this text will be as
influences, and inheritance. Genetics underscores the many stimulating to read as it was to write.
biochemical pathways, physiologic processes, and pathologic
mechanisms presented in other volumes of this series. It Linda R. Adkison, PhD
viii
Editorial Review Board
Chief Series Advisor James L. Hiatt, PhD
Professor Emeritus
J. Hurley Myers, PhD
Department of Biomedical Sciences
Professor Emeritus of Physiology and Medicine
Baltimore College of Dental Surgery
Southern Illinois University School of Medicine;
Dental School
President and CEO
University of Maryland at Baltimore
DxR Development Group, Inc.
Baltimore, Maryland
Carbondale, Illinois
Immunology
Anatomy and Embryology
Darren G. Woodside, PhD
Thomas R. Gest, PhD
Principal Scientist
University of Michigan Medical School
Drug Discovery
Division of Anatomical Sciences
Encysive Pharmaceuticals, Inc.
Office of Medical Education
Houston, Texas
Ann Arbor, Michigan
Microbiology
Biochemistry
Richard C. Hunt, MA, PhD
John W. Baynes, MS, PhD
Professor of Pathology, Microbiology, and Immunology
Graduate Science Research Center
Director of the Biomedical Sciences Graduate Program
University of South Carolina
Department of Pathology and Microbiology
Columbia, South Carolina
University of South Carolina School of Medicine
Marek Dominiczak, MD, PhD, FRCPath, FRCP(Glas) Columbia, South Carolina
Clinical Biochemistry Service
NHS Greater Glasgow and Clyde Neuroscience
Gartnavel General Hospital Cristian Stefan, MD
Glasgow, United Kingdom Associate Professor
Department of Cell Biology
Clinical Medicine
University of Massachusetts Medical School
Ted O’Connell, MD Worcester, Massachusetts
Clinical Instructor
David Geffen School of Medicine Pathology
UCLA; Peter G. Anderson, DVM, PhD
Program Director Professor and Director of Pathology Undergraduate
Woodland Hills Family Medicine Residency Program Education
Woodland Hills, California Department of Pathology
University of Alabama at Birmingham
Genetics
Birmingham, Alabama
Neil E. Lamb, PhD
Director of Educational Outreach Pharmacology
Hudson Alpha Institute for Biotechnology Michael M. White, PhD
Huntsville, Alabama; Professor
Adjunct Professor Department of Pharmacology and Physiology
Department of Human Genetics Drexel University College of Medicine
Emory University Philadelphia, Pennsylvania
Atlanta, Georgia
Physiology
Histology
Joel Michael, PhD
Leslie P. Gartner, PhD Department of Molecular Biophysics and Physiology
Professor of Anatomy Rush Medical College
Department of Biomedical Sciences Chicago, Illinois
Baltimore College of Dental Surgery
Dental School
University of Maryland at Baltimore
Baltimore, Maryland
ix
Contents
1 BASIC MECHANISMS 1
2 CHROMOSOMES IN THE CELL 12
3 MECHANISMS OF INHERITANCE 28
4 GENETICS OF METABOLIC DISORDERS 51
5 CANCER GENETICS 65
6 HEMATOLOGIC GENETICS AND DISORDERS 93
7 MUSCULOSKELETAL DISORDERS 114
8 NEUROLOGIC DISEASES 133
9 CARDIOPULMONARY DISORDERS 159
10 RENAL, GASTROINTESTINAL, AND HEPATIC DISORDERS 177
11 DISORDERS OF SEXUAL DIFFERENTIATION AND DEVELOPMENT 192
12 POPULATION GENETICS AND MEDICINE 209
13 MODERN MOLECULAR MEDICINE 217
INDEX 239
Case Studies and Case Study Answers are available online on Student Consult www.studentconsult.com
