Elsevier's Integrated Review Genetics E-Book , livre ebook

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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This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein).

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 using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility.
With respect to any drug or pharmaceutical products identified, readers are advised to check the most current information provided (i) on procedures featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications. It is the responsibility of practitioners, relying on their own experience and knowledge of their patients, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all appropriate safety precautions.
To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein.
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
Acquisitions Editor: Madelene Hyde Developmental Editor: Andrea Vosburgh Publishing Services Manager: Pat Joiner-Myers Project Manager: Marlene Weeks Design Direction: Steven Stave
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
Preface
Though the youngest of all the medical specialties, genetics embodies the essence of all normal and abnormal development and all normal and disease states. Perhaps because of its recent recognition as a discipline and perhaps because of its derivation from research in several areas, it is easier for genetics to be an integrated discipline. Approaching genetics as a particular gene located on a specific chromosome and inherited in a specific manner loses the appreciation of spatial and temporal dimensions of expression and the many, many factors affecting every single aspect of development, survival, and even death.
Every medical discipline is connected to human well-being through the mechanisms of gene expression, environmental influences, and inheritance. Genetics underscores the many biochemical pathways, physiologic processes, and pathologic mechanisms presented in other volumes of this series. It explains better the morphologic variation observed in embryologic development and anatomic presentation. It provides better insight into susceptibility to infection and disease. It offers insight into neurologic and behavioral abnormalities. It is defining the strategies for gene therapy and pharmacogenomics. For these reasons, it has been exciting to put this book together.
This text focuses on well-known and better described diseases and disorders that students and practitioners are likely to read about in other references. Many of these do not occur at a high frequency in populations, but they underscore major mechanisms and major concepts associated with many other medical situations. It is my hope that this text will be as stimulating to read as it was to write.
Linda R. Adkison, PhD
Editorial Review Board
Chief Series Advisor
J. Hurley Myers, PhD
Professor Emeritus of Physiology and Medicine
Southern Illinois University School of Medicine;
President and CEO
DxR Development Group, Inc.
Carbondale, Illinois
Anatomy and Embryology
Thomas R. Gest, PhD
University of Michigan Medical School
Division of Anatomical Sciences
Office of Medical Education
Ann Arbor, Michigan
Biochemistry
John W. Baynes, MS, PhD
Graduate Science Research Center
University of South Carolina
Columbia, South Carolina
Marek Dominiczak, MD, PhD, FRCPath, FRCP(Glas)
Clinical Biochemistry Service
NHS Greater Glasgow and Clyde
Gartnavel General Hospital
Glasgow, United Kingdom
Clinical Medicine
Ted O Connell, MD
Clinical Instructor
David Geffen School of Medicine
UCLA;
Program Director
Woodland Hills Family Medicine Residency Program
Woodland Hills, California
Genetics
Neil E. Lamb, PhD
Director of Educational Outreach
Hudson Alpha Institute for Biotechnology
Huntsville, Alabama;
Adjunct Professor
Department of Human Genetics
Emory University
Atlanta, Georgia
Histology
Leslie P. Gartner, PhD
Professor of Anatomy
Department of Biomedical Sciences
Baltimore College of Dental Surgery
Dental School
University of Maryland at Baltimore
Baltimore, Maryland
James L. Hiatt, PhD
Professor Emeritus
Department of Biomedical Sciences
Baltimore College of Dental Surgery
Dental School
University of Maryland at Baltimore
Baltimore, Maryland
Immunology
Darren G. Woodside, PhD
Principal Scientist
Drug Discovery
Encysive Pharmaceuticals, Inc.
Houston, Texas
Microbiology
Richard C. Hunt, MA, PhD
Professor of Pathology, Microbiology, and Immunology
Director of the Biomedical Sciences Graduate Program
Department of Pathology and Microbiology
University of South Carolina School of Medicine
Columbia, South Carolina
Neuroscience
Cristian Stefan, MD
Associate Professor
Department of Cell Biology
University of Massachusetts Medical School
Worcester, Massachusetts
Pathology
Peter G. Anderson, DVM, PhD
Professor and Director of Pathology Undergraduate Education
Department of Pathology and Microbiology
University of Alabama at Brimingham
Birmingham, Alabama
Pharmacology
Michael M. White, PhD
Professor
Department of Pharmacology and Physiology
Drexel University College of Medicine
Philadelphia, Pennsylvania
Physiology
Joel Michael, PhD
Department of Molecular Biophysics and Physiology
Rush Medical College
Chicago, Illinois
Table of Contents
Instructions for Online Access
1 BASIC MECHANISMS
2 CHROMOSOMES IN THE CELL
3 MECHANISMS OF INHERITANCE
4 GENETICS OF METABOLIC DISORDERS
5 CANCER GENETICS
6 HEMATOLOGIC GENETICS AND DISORDERS
7 MUSCULOSKELETAL DISORDERS
8 NEUROLOGIC DISEASES
9 CARDIOPULMONARY DISORDERS
10 RENAL, GASTROINTESTINAL, AND HEPATIC DISORDERS
11 DISORDERS OF SEXUAL DIFFERENTIATION AND DEVELOPMENT
12 POPULATION GENETICS AND MEDICINE
13 MODERN MOLECULAR MEDICINE
INDEX
CASE STUDIES
CASE STUDY ANSWERS
Case Studies and Case Study Answers are available online on Student Consult www.studentconsult.com
Series Preface
How to Use This Book
The idea for Elsevier s Integrated Series came about at a seminar on the USMLE Step 1 exam at an American Medical Student