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Congenital Heart Disease: Molecular Diagnostics (Methods in Molecular Medicine) PDF

281 Pages·2006·2.118 MB·English
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Congenital Heart Disease M E T H O D S I N M O L E C U L A R M E D I C I N E™ John M. Walker, SERIES EDITOR 129. Cardiovascular Disease: Methods and Proto- 110088.Hypertension: Methods and Protocols, cols,Volume 2, Molecular Medicine, edited edited by Jérôme P. Fennell and Andrew byQing Wang, 2006 H. Baker, 2005 128. Cardiovascular Disease: Methods and Proto- 110077.Human Cell Culture Protocols, Second cols,Volume 1, Genetics, edited by Qing Edition, edited by Joanna Picot, 2005 Wang, 2006 110066.Antisense Therapeutics, Second Edition, 127. DNA Vaccines: Methods and Protocols,Second edited by M. Ian Phillips, 2005 Edition, edited by Mark W. Saltzman, Hong 110055.Developmental Hematopoiesis: Methods Shen, and Janet L. Brandsma, 2006 and Protocols, edited by Margaret H. 112266.Congenital Heart Disease: Molecular Baron, 2005 Diagnostics,edited by Mary Kearns-Jonker, 2006 110044. Stroke Genomics: Methods and Reviews, 112255.Myeloid Leukemia:Methods and Protocols, edited by Simon J. Read and David Virley, edited by Harry Iland, Mark Hertzberg, 2004 and Paula Marlton, 2006 110033.Pancreatic Cancer: Methods and Protocols, 112244.Magnetic Resonance Imaging:Methods and edited by Gloria H. Su, 2004 Biological Applications, edited by Pottumarthi 110022.Autoimmunity: Methods and Protocols, V. Prasad, 2006 edited by Andras Perl, 2004 112233.Marijuana and Cannabinoid Research: 110011.Cartilage and Osteoarthritis: Volume 2, Methods and Protocols, edited by Emmanuel Structure and In Vivo Analysis, edited by S. Onaivi, 2006 Frédéric De Ceuninck, Massimo Sabatini, 112222.Placenta Research Methods and Protocols: and Philippe Pastoureau, 2004 Volume 2, edited by Michael J. Soares and 110000.Cartilage and Osteoarthritis: Volume 1, Joan S. Hunt, 2006 Cellular and Molecular Tools, edited by 112211.Placenta Research Methods and Protocols: Massimo Sabatini, Philippe Pastoureau, Volume 1, edited by Michael J. Soares and and Frédéric De Ceuninck, 2004 Joan S. Hunt, 2006 9999.Pain Research: Methods and Protocols, 112200.Breast Cancer Research Protocols,edited by edited by David Z. Luo, 2004 Susan A. Brooks and Adrian Harris, 2006 9988.Tumor Necrosis Factor: Methods and 111199.Human Papillomaviruses: Methods and Protocols, edited by Angelo Corti and Pietro Protocols,edited by Clare Davy and John Ghezzi, 2004 Doorbar, 2005 9977.Molecular Diagnosis of Cancer: Methods and 111188.Antifungal Agents: Methods and Protocols, Protocols, Second Edition, edited by Joseph E. edited by Erika J. Ernst and P. David Roulston and John M. S. Bartlett, 2004 Rogers, 2005 9966.Hepatitis B and D Protocols: Volume 2, 111177.Fibrosis Research: Methods and Protocols, Immunology, Model Systems, and Clinical edited by John Varga, David A. Brenner, Studies, edited by Robert K. Hamatake and and Sem H. Phan, 2005 Johnson Y. N. Lau, 2004 111166.Inteferon Methods and Protocols,edited by 9955.Hepatitis B and D Protocols: Volume 1, Daniel J. J. Carr, 2005 Detection, Genotypes, and Characterization, 111155.Lymphoma: Methods and Protocols, edited by edited by Robert K. Hamatake and Johnson Timothy Illidge and Peter W. M. Johnson, 2005 Y. N. Lau, 2004 111144.Microarrays in Clinical Diagnostics,edited 9944.Molecular Diagnosis of Infectious Diseases, byThomas O. Joos and Paolo Fortina, 2005 Second Edition, edited by Jochen Decker and 111133.Multiple Myeloma: Methods andProtocols, Udo Reischl, 2004 edited by Ross D. Brown and P. Joy Ho, 2005 9933.Anticoagulants, Antiplatelets, and 111122.Molecular Cardiology: Methods andProtocols, Thrombolytics,edited by Shaker A. Mousa, edited by Zhongjie Sun, 2005 2004 111111.Chemosensitivity: Volume 2, In Vivo 9922.Molecular Diagnosis of Genetic Diseases, Models, Imaging, and Molecular Regulators, Second Edition, edited by Rob Elles and edited by Rosalyn D. Blumethal, 2005 Roger Mountford, 2004 111100.Chemosensitivity: Volume 1, In Vitro Assays, 9911.Pediatric Hematology: Methods and edited by Rosalyn D. Blumethal, 2005 Protocols,edited by Nicholas J. Goulden 110099.Adoptive Immunotherapy: Methods and and Colin G. Steward, 2003 Protocols, edited by Burkhard Ludewig and 9900.Suicide Gene Therapy: Methods and Matthias W. Hoffman, 2005 Reviews,edited by Caroline J. Springer, 2004 M E T H O D S I N M O L E C U L A R M E D I C I N E™ Congenital Heart Disease Molecular Diagnostics Edited by Mary Kearns-Jonker Transplantation Biology Research Lab Division of Cardiothoracic Surgery Children's Hospital of Los Angeles Los Angeles, CA © 2006 Humana Press Inc. 999 Riverview Drive, Suite 208 Totowa, New Jersey 07512 www.humanapress.com All rights reserved. No part of this book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording, or otherwise without written permis- sion from the Publisher. Methods in Molecular Medicine™ is a trademark of The Humana Press Inc. All papers, comments, opinions, conclusions, or recommendations are those of the author(s), and do not necessarily reflect the views of the publisher. This publication is printed on acid-free paper. ∞ ANSI Z39.48-1984 (American Standards Institute) Permanence of Paper for Printed Library Materials. Production Editor: Melissa Caravella Cover design by Patricia F. Cleary Cover illustration: Cover artwork by Alexa Jonker. We thank Irina Shulkin for assistance with the graphic layout. For additional copies, pricing for bulk purchases, and/or information about other Humana titles, contact Humana at the above address or at any of the following numbers: Tel.: 973-256-1699; Fax: 973-256-8341; E-mail: [email protected]; or visit our Website: www.humanapress.com Photocopy Authorization Policy: Authorization to photocopy items for internal or personal use, or the internal or personal use of specific clients, is granted by Humana Press Inc., provided that the base fee of US $30.00 per copy is paid directly to the Copyright Clearance Center at 222 Rosewood Drive, Danvers, MA 01923. For those organizations that have been granted a photocopy license from the CCC, a separate system of payment has been arranged and is acceptable to Humana Press Inc. The fee code for users of the Transactional Reporting Service is: [1-58829- 375-0/06 $30.00]. Printed in the United States of America. 10 9 8 7 6 5 4 3 2 1 eISBN 1-59745-088-X ISSN 1543-1894 Library of Congress Cataloging in Publication Data Congenital heart disease : molecular diagnostics / edited by Mary Kearns-Jonker. p. ; cm. -- (Methods in molecular medicine ; 126) Includes bibliographical references and index. ISBN 1-58829-375-0 (alk. paper) 1. Congenital heart disease--Molecular diagnosis. 2. Congenital heart disease--Genetic aspects. 3. Heart--Diseases--Molecular diagnosis. 4. Heart--Diseases--Genetic aspects. 5. Molecular diagnosis. I. Kearns-Jonker, Mary. II. Series. [DNLM: 1. Heart Defects, Congenital--diagnosis. 2. Diagnostic Techniques, Cardiovascular. 3. Heart Defects, Congenital--genetics. 4. Molecular Biology--methods. WG 220 C7543 2006] RC687.C666 2006 616.1'042--dc22 2005026174 Preface The Methods in Molecular Medicine™ series is noted for providing clini- cians, research scientists, and interested individuals with detailed experimental procedures that are written by leading experts in the field. Congenital Heart Disease: Molecular Diagnostics introduces a series of techniques that are cur- rently used to identify the molecular basis for cardiovascular disease. New knowledge gained from the application of molecular genetics to medicine has had a significant impact in biomedical research. The chapters in this book update the reader on new developments in the field and introduce the technol- ogy currently used to define the molecular genetic basis for congenital malfor- mations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In addition, the limitations to identifying patients with con- genital heart disease using this information during both pre- and postnatal periods is discussed in this volume. The experimental techniques are presented in sufficient detail to ensure that the procedures can be reproduced in any labo- ratory, irrespective of the level of experience of the investigators. The notes section included at the end of each chapter provides valuable insight for troubleshooting, experimental design, and data analysis that come from the benefit of the expertise of the authors who are all renowned and well- respected in the field. It is my hope that Congenital Heart Disease: Molecular Diagnostics will be a valuable resource for medical personnel, researchers, patients, and their families. I would like to express my gratitude to the authors of this volume for their enthusiasm for the work and thoughtful input into each chapter. I would also like to thank the series editor, Professor John Walker, for his guidance and endless patience during the preparation of this volume. This book is dedicated to my mom, Lillian Kearns, and to my family for their continuous love and support. Mary Kearns-Jonker v Contents Preface ..............................................................................................................v Contributors .....................................................................................................ix 1 Introduction D. Woodrow Benson.............................................................................1 2 Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis Deborah A. McDermott, Craig T. Basson, and Cathy J. Hatcher.......19 3 Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome Deborah A. Driscoll............................................................................43 4 Mutation Screening for the Genes Causing Cardiac Arrhythmias Jeffrey A. Towbin................................................................................57 5 Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome Paul Coucke, Petra Van Acker, and Anne De Paepe..........................81 6 Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE Navaratnam Elanko and Steve Jeffery................................................97 7 Williams–Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization Lucy R. Osborne, Ann M. Joseph-George, and Stephen W. Scherer...113 8 Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis May Tassabehji and Zsolt Urban......................................................129 9 “Chip”ping Away at Heart Failure J. David Barrans and Choong-Chin Liew..........................................157 10 Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing Alex V. Postma, Zahurul A. Bhuiyan, and Hennie Bikker................171 11 Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens Aristotelis Astrinidis and Elizabeth Petri Henske.............................185 vii viii Contents 12 Friedreich Ataxia: Detection of GAA Repeat Expansions and Frataxin Point Mutations Massimo Pandolfo.............................................................................197 13 The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations Elizabeth Goldmuntz, Elizabeth Moore, and Nancy B. Spinner......217 14 Array Analysis Applied to Malformed Hearts: Molecular Dissection of Tetralogy of Fallot Silke Sperling....................................................................................233 15 DNA Mutation Analysis in Heterotaxy Stephanie M. Ware...........................................................................247 16 Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies Amy J. Sehnert..................................................................................257 Index............................................................................................................271 Contributors ARISTOTELIS ASTRINIDIS • Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA J. DAVID BARRANS • Department of Medicine, Brigham and Women’s Hospital, Boston, MA CRAIG T. BASSON • Greenberg Cardiology Division, Department of Medicine, Weill Medical College of Cornell University, New York, NY D. WOODROW BENSON • Division of Cardiology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH ZAHURUL A. BHUIYAN• Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands HENNIE BIKKER • Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands PAUL COUCKE• Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium ANNE DE PAEPE • Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium DEBORAH A. DRISCOLL • Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, PA NAVARATNAM ELANKO • Genetics Unit, St. George’s Hospital, London, United Kingdom ELIZABETH GOLDMUNTZ • The Division of Cardiology, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, PA CATHY J. HATCHER • Greenberg Cardiology Division, Department of Medicine, Weill Medical College of Cornell University, New York, NY ELIZABETH PETRI HENSKE • Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA STEVE JEFFERY • Division of Medical Genetics, Department of Clinical Developmental Sciences, St. George’s University of London, London, United Kingdom ANN M. JOSEPH-GEORGE • Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada MARY KEARNS-JONKER • Transplantation Biology Research Lab, Division of Cardiothoracic Surgery, Children's Hospital of Los Angeles, Los Angeles, CA ix x Contributors CHOONG-CHIN LIEW • Department of Medicine, Brigham and Women’s Hospital, Boston, MA DEBORAH A. MCDERMOTT • Greenberg Cardiology Division, Department of Medicine, Weill Medical College of Cornell University, New York, NY ELIZABETH MOORE • Division of Human Genetics, The Children’s Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA LUCY R. OSBORNE • Department of Medicine, The University of Toronto, Toronto, Ontario, Canada MASSIMO PANDOLFO • Service de Neurologie, Université Libre de Bruxelles- Hôpital Erasme, Bruxelles, Belgium ALEX V. POSTMA • Experimental and Molecular Cardiology Group, Academic Medical Center, Amsterdam, The Netherlands STEPHEN W. SCHERER • Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada AMY J. SEHNERT • Department of Pediatrics, University of California at San Francisco, Pediatric Heart Center, San Francisco, CA; CardioDX Inc., Palo Alto, CA SILKE SPERLING • Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany NANCY B. SPINNER • The Division of Human Genetics, The Children’s Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA MAY TASSABEHJI • Academic Unit of Medical Genetics, The University of Manchester, St Mary’s Hospital, Manchester, United Kingdom JEFFREY A. TOWBIN • Pediatric Cardiology, Texas Children’s Hospital, Houston, TX ZSOLT URBAN • Departments of Pediatrics and Genetics, Washington University School of Medicine, St. Louis, MO PETRA VAN ACKER • Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium STEPHANIE M. WARE • Divisions of Molecular Cardiovascular Biology and Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

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