Medical Genetics: an Integrated Approach (Review Questions) PDF
Preview Medical Genetics: an Integrated Approach (Review Questions)
Medical Genetics Notice Medicine is an ever-changing science. As new research and clinical experience broaden our knowledge, changes in treatment and drug therapy are required. The authors and the publisher of this work have checked with sources believed to be reliable in their efforts to provide information that is complete and generally in accord with the standards accepted at the time of publication. However, in view of the possibility of human error or changes in medical sciences, neither the authors nor the publisher nor any other party who has been involved in the preparation or publication of this work warrants that the information contained herein is in every respect accurate or complete, and they disclaim all responsibility for any errors or omissions or for the results obtained from use of the information contained in this work. Readers are encouraged to confirm the information contained herein with other sources. For example and in particular, readers are advised to check the product information sheet included in the package of each drug they plan to administer to be certain that the information contained in this work is accurate and that changes have not been made in the recommended dose or in the contraindications for administration. This recommendation is of particular importance in connection with new or infrequently used drugs. Medical Genetics AN INTEGRATED APPROACH G. Bradley Schaefer, MD Professor of Genetics and Pediatrics University of Arkansas for Medical Sciences Arkansas Children’s Hospital Little Rock, Arkansas James N. Thompson, Jr., PhD David Ross Boyd Professor Department of Biology University of Oklahoma Norman, Oklahoma New York Chicago San Francisco Athens London Madrid Mexico City Milan New Delhi Singapore Sydney Toronto Copyright © 2014 by McGraw-Hill Education. All rights reserved. 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Under no circumstances shall McGraw-Hill Education and/or its licensors be liable for any indirect, incidental, special, punitive, consequential or similar damages that result from the use of or inability to use the work, even if any of them has been advised of the possibility of such damages. This limitation of liability shall apply to any claim or cause whatsoever whether such claim or cause arises in contract, tort or otherwise. D e D i c a t i o n To my wife, Becky. She has been my encourager, listening ear and motivator throughout the entirety of this project. Hopefully she gets more out of this than just a free copy of the book. — G. Bradley Schaefer To my mother, Jean, and my sister, Lisa. Their patient encouragement helped make this an especially rewarding project. In addition, with his excellent work ethic and sense of humor, working with my longtime friend and colleague, Brad Schaefer, could not have been more enjoyable. — James N. Thompson, Jr. This page intentionally left blank Contents Preface ix Acknowledgments x 1 Genetics: Unity and Diversity 1 2 Information Flow and Levels of Regulation 17 3 The Organization of Development 49 4 The Structure and Function of Genes 77 5 Clinical Cytogenetics 99 6 Mendelian Genetics: Patterns of Gene Transmission 139 7 Mutation 165 8 Metabolism 183 9 Family History and Pedigree Analysis 201 10 Multifactorial Inheritance and Gene × Environment Interactions 213 11 Genetic Testing and Screening 229 12 Atypical Modes of Inheritance 249 13 Disorders of Organelles 269 14 Genetic Therapeutics 297 15 Population Genetics and Genetic Diversity 309 16 Of Fruit Flies, Mice, and Patients: Tying It All Together 325 Key Genetic Diseases, Disorders, and Syndromes 341 Glossary 343 Answers to Board-Format Practice Questions 357 Index 365 vii This page intentionally left blank Preface Genetics in medicine. Genetics and medicine. The genetics of entering medical students. Over the past decade, medical of medicine. All of these reflect slightly different aspects of schools have purposefully sought a more diversified group the integration of basic genetic principles into the practice of of applicants. While this diversity definitely provides a more medicine. The genetic “revolution” that has occurred over the interesting—and fun—group of students, it presents a major past 20 years has thrust clinical genetics into the mainstream challenge in teaching “medicine” and medical genetics in of medical practice. No longer is genetics a small, poorly particular. One student in the class may have just finished understood discipline tucked away in the department of a doctorate degree in molecular genetics while a classmate pediatrics or obstetrics. Rather, every component of health may have a liberal arts background and have taken only the care delivery requires at least a working knowledge of core minimal amount of required science courses for admission and genetic principles. This fact is directly reflected in changes to attain a decent score on the MCATs. Instructors can assume in medical school curricula, board questions, and continuing a student’s motivation and intelligence, but undergraduate medical education. While the vast majority of medical background diversity means that they cannot necessarily students will not go on to specialize in medical genetics, all assume specific prior science knowledge. of them will need to know much about genetic concepts and With this in mind, we have organized each chapter in this principles—more, perhaps, than some would like. Still, there book into three distinct parts: truly is not a discipline in all of medicine that does not use 1. background and systems integration genetic principles, genetic information, and genetic techniques 2. medical genetics, and in the practice of its field. Thus, a textbook in medical genetics 3. case study applications. must of necessity be broad and inclusive in the scope of material covered. The principles must be unifying and globally The background and systems portion contain the applicable. There must be sufficient detail to guide the student basic genetic principles needed to understand the medical to successful completion of the curriculum at his/her respective application. This information is available for any student medical school and to pass all three steps of the United States needing to refresh themselves on the principles—or in some Medical Licensing Examination (USMLE). Most importantly, cases to learn it for the first time. This information draws upon it should be a resource that students can use throughout their principles that would have been covered in an undergraduate medical school years and beyond to refer to when questions genetics course and utilizes abundant graphics and tabular arise during the times of residency and practice as a professional. information. It emphasizes the “why” and “how” of these One caveat needs to be mentioned. The rapid pace principles to hopefully address the common concern voiced at which genetic information is changing will require by many medical students, “Why do I need to know this. I’m frequent and periodic updates to the information base. The going to be a __________.” For the student with a stronger printed textbook will require electronic augmentation for background in genetics, this section may be easily skipped; this generation of learners and updates to keep up with the each part of the chapter is written as a stand-alone component. dizzying pace of additional genetic knowledge. Any updates The “meat” of each chapter is in the second (medical genetics) will be available at http://www.langetextbooks.com/. part. This part contains all of the pertinent information to build This book utilizes an integrated approach to medical a strong knowledge base for being successful on all three steps genetics by combining a tailored introduction to essential of the USMLE. The third part uses case study examples to general genetics and up-to-date coverage of medical genetics emphasize the direct application of these facts and principles following the curriculum recommended by the Association to patient care. of Professors of Human Genetics and Medical Genetics and This book is written as a narrative that develops with by the American Society of Human Genetics Guidelines. subsequent chapters building upon the foundation laid by the Core genetic principles are reviewed with an emphasis on previous chapters. Thus, the whole “story” of medical genetics mechanisms and unifying concepts. could be read from cover to cover if so desired. Alternatively, One of the great challenges of teaching medical genetics is each chapter is also organized to stand alone and can be the tremendous diversity found in the educational background accessed for specific references and topics. ix
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