Medical Genetics E-Book

John C. Carey, Lynn B. Jorde, Michael J. Bamshad

Description

Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention.

• Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text.
• More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance.
• Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses.
• Self-assessment study questions aid in retention and review of key material. 

• 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.

Informations

• Publié par: Elsevier
• Date de parution: 12 août 2015
• Nombre de lectures: 0
• EAN13: 9780323188371
• Langue: English
• Poids de l'ouvrage: 23 Mo

Extrait

Medical Genetics

F I F T H EDI T I O N

Lynn B. Jorde, PhD Professor H.A. and Edna Benning Presidential Chair Department of Human Genetics University of Utah Health 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

Table of Contents

Cover image

Title Page

Copyright

Dedication

Foreword

Preface

Acknowledgments

Chapter 1 Background and History What Is Medical Genetics? Why Is a Knowledge of Medical Genetics Important for Today's Health-Care Practitioner?

A Brief History

Types of Genetic Diseases

The Clinical Impact of Genetic Disease

Suggested Readings

Chapter 2 Basic Cell Biology DNA, RNA, and Proteins: Heredity at the Molecular Level The Structure of Genes and the Genome

The Cell Cycle

Study Questions

Suggested Readings

Chapter 3 Genetic Variation Mutation: The Source of Genetic Variation Detection and Measurement of Genetic Variation

Genetic Variation in Populations

Study Questions

Suggested Readings

Chapter 4 Autosomal Dominant and Recessive Inheritance Basic Concepts of Formal Genetics Autosomal Dominant Inheritance

Autosomal Recessive Inheritance

Factors that Affect Expression of Disease-Causing Genes

Consanguinity in Human Populations

Study Questions

Suggested Readings

Chapter 5 Sex-Linked and Nontraditional Modes of Inheritance X Inactivation Sex-Linked Inheritance

Sex-Limited and Sex-Influenced Traits

Mitochondrial Inheritance

Genomic Imprinting

Study Questions

Suggested Readings

Chapter 6 Clinical Cytogenetics Cytogenetic Technology and Nomenclature Abnormalities of Chromosome Number

Chromosome Abnormalities and Pregnancy Loss

Abnormalities of Chromosome Structure

Chromosome Abnormalities and Clinical Phenotypes

Cancer Cytogenetics

Chromosome Instability Syndromes

Study Questions

Suggested Readings

Chapter 7 Biochemical Genetics Variants of Metabolism Defects of Metabolic Processes

Study Questions

Suggested Readings

Chapter 8 Disease-Gene Identification Gene Mapping Physical Mapping and Cloning

Gene Mapping by Association: Genome-Wide Association Studies

Exome and Whole-Genome Sequencing

Study Questions

Suggested Readings

Chapter 9 Immunogenetics The Immune Response: Basic Concepts Immune Response Proteins: Genetic Basis of Structure and Diversity

The Major Histocompatibility Complex

Immunodeficiency Diseases

Study Questions

Suggested Readings

Chapter 10 Genetic Basis of Development Development Genetic Mediators of Development: The Molecular Toolbox

Pattern Formation

Study Questions

Suggested Readings

Chapter 11 Cancer Genetics Causes of Cancer Cancer Genes

Major Classes of Cancer Genes

Identification of Inherited Cancer-Causing Genes

Is Genetic Inheritance Important in Common Cancers?

Study Questions

Suggested Readings

Chapter 12 Multifactorial Inheritance and Common Diseases Principles of Multifactorial Inheritance Nature and Nurture: Disentangling the Effects of Genes and Environment

The Genetics of Common Diseases

Some General Principles and Conclusions

Study Questions

Suggested Readings

Chapter 13 Genetic Testing and Gene Therapy Population Screening for Genetic Disease Molecular Tools for Screening and Diagnosis

Prenatal Diagnosis of Genetic Disorders and Congenital Defects

Fetal Treatment

Gene Therapy

Study Questions

Suggested Readings

Chapter 14 Genetics and Precision Medicine A Technology-Driven Transformation The Impact of Genomics

The Future of Predictive Medicine

Study Questions

Suggested Readings

Chapter 15 Clinical Genetics and Genetic Counseling The Principles and Practice of Clinical Genetics Dysmorphology and Clinical Teratology

Bioethics and Medical Genetics

Study Questions

Suggested Readings

Glossary

Answers to Study Questions Chapter 2 Chapter 3 Chapter 4

Chapter 5 Chapter 6 Chapter 7

Chapter 8 Chapter 9 Chapter 10 Chapter 11 Chapter 12 Chapter 13 Chapter 14 Chapter 15

Index

Copyright

1600 John F. Kennedy Blvd. Ste 1800 Philadelphia, PA 19103-2899 MEDICAL GENETICS, FIFTH EDITION ISBN: 978-0-323-18835-7 Copyright © 2016 by Elsevier, Inc. All rights reserved. Copyright © 2010, 2006, 2003, 2000, 1995 by Mosby, Inc., an affiliate 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. Details on how to seek permission, further information about the Publisher's permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website:www.elsevier.com/permissions. 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.

Library of Congress Cataloging-in-Publication Data Jorde, Lynn B., author. Medical genetics / Lynn B. Jorde, John C. Carey, Michael J. Bamshad.—Fifth edition.  p. ; cm. Includes bibliographical references and index. ISBN 978-0-323-18835-7 (pbk. : alk. paper) I. Carey, John C., 1946- , author. II. Bamshad, Michael J., author. III. Title. [DNLM: 1. Genetic Diseases, Inborn—genetics. 2. Genetics, Medical— methods. 3. Genetic Counseling. 4. Genetic Predisposition to Disease. 5. Genetic Techniques. QZ 50] RB155 616'.042—dc23  2015019218 Content Strategist:Meghan Ziegler Content Development Manager:Lucia Gunzel Senior Content Development Specialist:Rae Robertson Publishing Services Manager:Catherine Jackson Project Manager:Rhoda Howell Design Direction:Ashley Miner Printed in Canada Last digit is the print number: 9 8 7 6 5 4 3 2 1

Dedication

To Our Families Debra,Eileen, andAlton Jorde Leslie,Patrick, andAndrew Carey JerryandJoanne Bamshad