Medical Genetics E-Book


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Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list.

  • This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. .
  • Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text.
  • Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes.
  • Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention.
  • Presents a new chapter on genomics and personalized medicine for the latest on these hot topics.
  • Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics.
  • Includes study questions at the end of every chapter so you can test yourself and retain the material.
  • Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.


Formal sciences
Sciences et techniques
Osteogénesis imperfecta
Genoma mitocondrial
Mental retardation
MHC class II
Chromosome abnormality
Medical genetics
Personalized medicine
MHC class I
Human genetics
Missense mutation
Inborn error of metabolism
Familial adenomatous polyposis
Biological agent
Nonsense mutation
Quantitative trait locus
Physician assistant
Genetic variation
Nucleic acid sequence
Congenital disorder
Genetic testing
Genetic counseling
Major histocompatibility complex
General practitioner
Medical ultrasonography
Homology (biology)
Human development (biology)
Heart disease
Cystic fibrosis
Turner syndrome
Diabetes mellitus
Tumor suppressor gene
Nucleic acid
Messenger RNA
Molecular biology
Gene therapy
Genetic disorder
Down syndrome
Complementary DNA


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Published 06 October 2009
Reads 1
EAN13 9780323075763
Language English
Document size 19 MB

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Medical Genetics
Fourth Edition
Lynn B. Jorde, PhD Professor, H.A. and Edna Benning Presidential Chair, Department of Human Genetics, University of Utah He alth Sciences Center, Salt Lake City, Utah
John C. Carey, MD, MPH Professor, Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah
Michael J. Bamshad, MD Professor, Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children’s Hospital, Seattle, Washington
1600 John F. Kennedy Blvd Ste 1800 Philadelphia, PA 19103-2899
ISBN: 978-0-323-05373-0 Copyright © 2010, 2006, 2003, 2000, 1995 by Mosby, Inc., an aliate of Elsevier Inc.
All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without
permission in writing from the publisher. Permissions may be sought directly from
Elsevier’s Rights Department: phone: (+1) 215 239 3 804 (US) or (+44) 1865
843830 (UK); fax: (+44) 1865 853333; e-mail:healthpermissions@ You may also complete your request on-line via the Elsevier website at
Knowledge and best practice in this Āeld are constantly changing. As new research and experience broaden our knowledge, changes in practice, treatment, and drug therapy may become necessary or appropriate. 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 the practitioner, relying on his or her experience and knowledge of the patient, 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 assume any liability for any injury and/or damage to persons or property arising out of or related to any use of the material contained in this book.
The Publisher
Library of Congress Cataloging-in-Publication Data
Jorde, Lynn B.
Medical genetics / Lynn B. Jorde, John C. Carey, Michael J. Bamshad. – 4th
p. ; cm. Rev. ed. of: Medical genetics / Lynn B. Jorde … [et al.]. 3rd ed. 1996.
Includes bibliographical references.
ISBN 978-0-323-05373-0
1. Medical genetics. I. Carey, John C., 1946- II. B amshad, Michael J. III.
Medical genetics. IV. Title. [DNLM: 1. Genetic Diseases, Inborn–genetics. 2. Genetics, Medical–methods. 3. Genetic Services. 4. Genetic Techniques. QZ 50 J82m 2010]
RB155.J67 2010
616′.042–dc22 2009027335 Acquisitions Editor:Kate Dimock
Developmental Editor:Andrew Hall Publishing Services Manager:Linda Van Pelt Project Manager:Frank Morales
Design Direction:Steve Stave
Printed in China Last digit is the print number: 9 8 7 6 5 4 3 2 1
To Our Families
Debra, Eileen, and Alton Jorde
Leslie, Patrick, and Andrew Carey
Jerry and Joanne Bamshad
John Opitz, MD , Salt Lake City, Utah
J.B.S. Haldane titled an anthology of some of his m ore dyspeptic writings “Everything Has a History,” and this is clearly app licable to the eld of medical
genetics. More than 200 years ago scientists such as Bu$on, Lamarck, Goethe, and Kielmeyer reected on how the developmental history of each organism related to the history of life on Earth. Based on these ideas, the discipline of biology was born in 18th century Europe, enjoyed adolescence as morphology and comparative anatomy in the 19th century, and reache d adulthood in the 20th century as the eld of genetics. However, the late 19th century denition of genetics (heredity) as the science of variation (and its causes) is still valid. Thus,
human genetics is the science of human variation, medical genetics the science of
abnormal human variation, and clinical genetics tha t branch of medicine that cares for individuals and families with abnormal va riation of structure and function. In the late 19th and early 20th centuries, the unit y of morphology-based science was gradually replaced by a pluralistic view of biology that splintered the
eld into many di$erent, and often rivalrous, disciplines. However, thanks to the application of novel molecular biological methods to the analysis of development and to the understanding of the materials of heredity (i.e., genes), the various
branches of biology are being reunited. This new di scipline, termed molecular
morphology, may be dened as the study of the form, formation, transformation, and malformation of living organisms. Indeed, ignorant as they may be of the traditional methods of historiography, geneticists have developed their own brilliant and highly e$ective methods. Consequently , they have achieved a perspective remarkably longer and much better docum ented than that of historians. This nearly 4-billion-year perspective unites living organisms into a single web of life related to one another in unbrok en descent to a common
ancestor. This makes the phylogenetic (i.e., the genetic relationships of di$erent species to one another) and the ontogenetic (i.e., the genetic basis for the development of individual organisms) perspectives o f development not only complementary but inseparable. Thus, it is now possible to e$ectively explore a key question of biology of the 19th and 20th centuries: What is the relationship between evolution and development?
In 1945 the University of Utah established the Laboratory for the Study of Hereditary and Metabolic Disorders (later called th e Laboratory of Human Genetics). Here, an outstanding group of scientists performed pioneering studies on clefts of lips and palate, muscular dystrophy, a lbinism, deafness, hereditary polyposis of the colon (Gardner syndrome), and fami lial breast cancer. These predecessors would be enormously proud of their current peers at the University of Utah, whose successes have advanced knowledge in every aspect of the eld of genetics. In their attempts to synthesize the story of genetics and its applications to human variability, health and disease, development, and cancer, the authors of this text have succeeded admirably. This concise, w ell-written and -illustrated,
carefully edited and indexed book is highly recomme nded to undergraduate students, new graduate students, medical students, genetic counseling students, nursing students, and students in the allied health sciences. Importantly, it is also
a wonderful text for practicing physicians (primary care providers and specialists) who want an authoritative introduction to the basis and principles of modern genetics as applied to human health and development. This text, by distinguished and internationally respected colleagues and friends who love to teach, is a joy to read in its expression of enthusiasm and of wonder, which Aristotle said was the
beginning of all knowledge.
Einstein once said, “The most incomprehensible thing about the world is that it is comprehensible.” When I began to work in the eld of medical genetics, the gene was widely viewed as incomprehensible. Indeed, some scientists, such as
Goldschmidt, cast doubt on the very existence of th e gene, although the great American biologist E.B. Wilson had predicted its chemical nature more than 100 years previously. In this text, genes and their fun ction in health and disease are
made comprehensible in a manner that should have wide appeal to all.
Lynn B. Jorde
John C. Carey
Michael J. Bamshad
Medical genetics is a rapidly progressing eld. No textbook can remain factually
current for long, so we have attempted to emphasize the central principles of genetics and their clinical application. In particular, this textbook integrates recent developments in molecular genetics and genomics with clinical practice.
This new edition maintains the format and presentation that were well received
in three previous editions. Basic principles of molecular biology are introduced early in the book so that they can be discussed and applied in subsequent chapters. The chapters on autosomal and X-linked di sorders include updated discussions of topics such as genomic imprinting, a nticipation, and expanded trinucleotide repeats. The chapter on cytogenetics highlights important advances in this area, including comparative genomic hybridization and newly described microdeletion syndromes. Gene mapping and identica tion, which constitute a
central focus of modern medical genetics, are treat ed at length, and recent advances based on completion of the human genome pr oject are discussed. Chapters are included on the rapidly developing elds of immunogenetics and cancer genetics. Considerable discussion is devoted to the genetics of common adult diseases, such as heart disease, diabetes, stroke, and hypertension. The book concludes with chapters on genetic diagnosis (again emphasizing current molecular approaches such as microarray analysis), gene therapy, personalized
medicine, and clinical genetics and genetic counseling.
As in previous editions, a Web site is available to provide access to continually changing information in medical genetics (
The Web site includes downloadable versions of all of the gures in the textbook, many additional patient photographs, hyperlinks to other relevant sites, and a battery of test questions and answers.
Several pedagogical aids are incorporated in this book:
• Clinical Commentary boxes present detailed coverage of the most important
genetic diseases and provide examples of modern clinical management.
• Mini-summaries, highlighted in red, are placed on nearly every page to help the reader understand and summarize important concepts.
• Study questions, provided at the end of each chapter, assist the reader in review
and comprehension.
• A detailed glossary is included at the end of the book.
• Key terms are emphasized in boldface.
• Important references are listed at the end of each chapter. Many major additions have been incorporated into this edition:
• All chapters have been thoroughly updated, with special attention given to rapidly changing topics such as genetic diagnosis, gene therapy, cancer genetics, and the genetics of other common diseases.
• A new chapter, entitled “Genetics and Personalized Medicine,” has been added.
• More than 100 new clinical photographs and figures have been added or updated.
• To facilitate the creation of illustrations for teaching purposes, all images on the Web site (including line drawings from the textbook) can now be downloaded.
• An expanded comprehensive index includes all text citations of all diseases. This textbook evolved from courses we teach for med ical students, nursing students, genetic counseling students, and graduate and undergraduate students in
human genetics. These students are the primary audience for this book, but it
should also be useful for house sta7, physicians, a nd other health care professionals who wish to become more familiar with medical genetics.
Many of our colleagues have generously donated thei r time and expertise in reading and commenting on portions of this book. We extend our sincere gratitude to Diane Bonner, PhD; Arthur Brothman, PhD; Peter B yers, MD; William Carroll, MD; Debbie Dubler, MS; Ruth Foltz, MS; Ron Gibson, MD, PhD; Sandra Hasstedt, PhD; Susan Hodge, PhD; Rajendra Kumar-Singh, PhD; James Kushner, MD; Jean-
Marc Lalouel, MD, DSc; Claire Leonard, MD; Mark Lep pert, PhD; William McMahon, MD; James Metherall, PhD; Dan Miller, MD, PhD; Sampath Prahalad,
MD; Shige Sakonju, PhD; Gary Schoenwolf, PhD; Sarah South, PhD; Carl Thummel, PhD; Thérèse Tuohy, PhD; Scott Watkins, MS ; John Weis, PhD; H. Joseph Yost, PhD; Maxine J. Sutcli7e, PhD; Leslie R . Schover, PhD; and Craig Smith, medical student. In addition, a number of co lleagues provided photographs; they are acknowledged individually in the gure captions. We wish to thank Peeches Cedarholm, RN; Karin Dent, MS; Bridget Kramer, RN; and Ann Rutherford, BS, for their help in obtaining and org anizing the photographs. The karyotypes in Chapter 6 were provided by Arthur Bro thman, PhD, and Bonnie Issa, BS.
Our editors at Elsevier, Kate Dimock and Andrew Hal l, o7ered ample encouragement and understanding.
Finally, we wish to acknowledge the thousands of students with whom we have interacted during the past three decades. Teaching involves communication in both directions, and we have undoubtedly learned as much from our students as they have learned from us.