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9   8   7   6   5   4   3   2   1

Library of Congress Cataloging-in-Publication Data

Dudek, Ronald W., 1950-

Genetics / Ron W. Dudek. — 1st ed.

p. ; cm. —  (Board review series)

Includes bibliographical references and index.
ISBN 978-0-7817-9994-2 (alk. paper)

1.  Genetics—Examinations, questions, etc.  I. Title. II. Series: Board

review series. 

[DNLM: 1.  Genetic Phenomena—Examination Questions. 2.  Genetic Diseases,

Inborn—Examination Questions.  QU 18.2 D845g 2009]

QH440.3.D83 2009
576.5078—dc22

2009000283

DISCLAIMER

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expressed or implied, with respect to the currency, completeness, or accuracy of the contents of the publi-
cation. Application of this information in a particular situation remains the professional responsibility of
the practitioner; the clinical treatments described and recommended may not be considered absolute and
universal recommendations.

The authors, editors, and publisher have exerted every effort to ensure that drug selection and dosage

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v

Acknowledgments

I would like to express my thanks to Betty Sun for having the confidence in me so that
I could write BRS Genetics. My working relationship with Betty Sun has extended over
many years and many book projects. It was my pleasure and privilege to work with
Betty Sun, who always brought wise counsel, keen insight, and common sense to the
table.

I would also like to thank all the LWW staff who played a role in BRS Genetics, includ-

ing Kathleen Scogna, Stacey Sebring, Jen Clements, Jenn Verbiar, Jennifer Kuklinski, and
Sally Glover. 

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Since many US medical schools are unable to find adequate time in the curriculum for
an in-depth genetics course, medical students find themselves in a less than advanta-
geous position when reviewing genetics for the USMLE Step 1. A brief visit to any med-
ical bookstore will reveal that there are about six excellent genetics textbooks that
cover basic genetics and modern molecular genetic advancements. However good
these books are, they are not designed for a review process under the time constraints
that medical students face when preparing for the USMLE Step 1. Consequently, I
wrote BRS Genetics with the goal of placing the student in a strategic position to
review genetics in a reasonable time period and most importantly to answer all the
Genetics questions that would likely appear on the USMLE Step 1. BRS Genetics
expands many of the topics that have been included in High Yield Genetics for the stu-
dent that needs a little more background and wants a little more depth. In addition,
BRS Genetics has test questions after each chapter and a comprehensive exam that
should serve the student well not only for USMLE Step 1 but also in their coursework.

Discussions concerning the preparation for the USMLE Step 1 usually include

mention of the “big three”: pathology, pharmacology, and physiology. For many
USMLE Step 1 clinical case style of questions, these three disciplines coordinate very
nicely to present a clinical case and then ask a mechanistic question as to WHY some-
thing is observed or HOW a specific drug treatment works. The “big three” has become
a perfect triad for USMLE Step 1 preparation.

However, in the future, I think that a “new big three” will develop: embryology,

genetics, and molecular biology. With the completion of the Human Genome Project
and now the advancement of genome mapping for every individual, the future of
medicine will revolve around the elucidation of the genetics of birth defects and other
human diseases spearheaded by molecular biology techniques. Exactly when the “new
big three” will have significant representation on the USMLE Step 1 is impossible for
me to predict. However, when this does occur, the BRS series will be strategically
placed to serve its customers with three superb publications: BRS Embryology,  BRS
Genetics
BRS Biochemistry and Molecular Biology (by Swanson, Kim, and Gluckman),
and High Yield Cell and Molecular Biology. These books are well integrated, have min-
imal overlap, and are updated with the latest information. 

More than any other field of medicine in the future, genetics and molecular biol-

ogy will be the engines that drive new breakthroughs and new information that are rel-
evant to clinical practice. This will require that BRS Embryology,  BRS Genetics,  BRS
Biochemistry and Molecular Biology 
(by Swanson, Kim, and Gluckman), and High
Yield Cell and Molecular Biology be routinely updated with new clinically relevant
information. For this, I rely on my readers to e-mail me suggestions, comments, and
new ideas for future editions. Please e-mail me at dudekr@ecu.edu 

Dr. Ron W. Dudek

vii

Preface

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