Table Of Content

Cytogenetics and Molecular Cytogenetics Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is diffcult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of- the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies. KEY FEATURES • Provides clear summaries of fuorescence in situ hybridization technologies and others • Comprehensively covers established and emerging methods • Chapters from an international team of leading researchers • Useful for students, researchers and clinicians Medical Genomics and Proteomics Series Editors Scott O. Rogers Science publisher Charles R. Crumly—CRC Press/Taylor & Francis Group Published Titles Molecular Analyses Edited by Scott O. Rogers Cytogenetics and Molecular Cytogenetics Edited by Thomas Liehr For more information about this series, please visit: www.routledge.com/Medical- Genomics-and-Proteomics/book-series/CRCMOLGENPRO Cytogenetics and Molecular Cytogenetics Edited by Thomas Liehr Legend for fgure in titlepage: Central white Figure part consists (from left to right) of: Two schemes showing multicolor-banding and chromosomal translocations were provided by Leon Liehr (Jena, Germany; https://leonliehr. jimdofree.com/), the partial M-FISH karyogramm, the interphase nucleus and the chromosomal microarray fgures are derived from chapters 14 (part of 1), 6 (part of 1D) and 21 (part of 2A), respectively. First Edition published 2023 by CRC Press 6000 Broken Sound Parkway NW, Suite 300, Boca Raton, FL 33487–2742 and by CRC Press 4 Park Square, Milton Park, Abingdon, Oxon, OX14 4RN CRC Press is an imprint of Taylor & Francis Group, LLC © 2023 selection and editorial matter, Thomas Liehr; individual chapters, the contributors Reasonable efforts have been made to publish reliable data and information, but the author and publisher cannot assume responsibility for the validity of all materials or the consequences of their use. The authors and publishers have attempted to trace the copyright holders of all material reproduced in this publication and apologize to copyright holders if permission to publish in this form has not been obtained. If any copyright material has not been acknowledged please write and let us know so we may rectify in any future reprint. Except as permitted under U.S. Copyright Law, no part of this book may be reprinted, reproduced, transmitted, or utilized in any form by any electronic, mechanical, or other means, now known or hereafter invented, including photocopying, microflming, and recording, or in any information storage or retrieval system, without written permission from the publishers. For permission to photocopy or use material electronically from this work, access www. copyright.com or contact the Copyright Clearance Center, Inc. (CCC), 222 Rosewood Drive, Danvers, MA 01923, 978–750–8400. For works that are not available on CCC please contact [email protected] Trademark notice: Product or corporate names may be trademarks or registered trademarks and are used only for identifcation and explanation without intent to infringe. Library of Congress Cataloging‑in‑Publication Data Names: Liehr, Thomas, 1965-editor. Title: Cytogenetics and molecular cytogenetics / edited by Thomas Liehr. Description: First edition. | Boca Raton : CRC Press, 2023. | Series: Medical genomics and proteomics | Includes bibliographical references and index. Identifers: LCCN 2022026812 (print) | LCCN 2022026813 (ebook) | ISBN 9781032121628 (hardback) | ISBN 9781032122212 (paperback) | ISBN 9781003223658 (ebook) Subjects: LCSH: Cytogenetics. | Molecular genetics. Classifcation: LCC QH441.5 .C98 2023 (print) | LCC QH441.5 (ebook) | DDC 572.8—dc23/ eng/20220713 LC record available at https://lccn.loc.gov/2022026812 LC ebook record available at https://lccn.loc.gov/2022026813 ISBN: 978-1-032-12162-8 (hbk) ISBN: 978-1-032-12221-2 (pbk) ISBN: 978-1-003-22365-8 (ebk) DOI: 10.1201/9781003223658 Typeset in Times by Apex CoVantage, LLC To my two teachers in Human Genetics and Chromosomics: Prof. Erich Gebhart (Erlangen, Germany), who showed to me the importance of publishing results, and Prof. Uwe Claussen (Jena, Germany), who was a role model for unconventional thinking. Contents Series Preface............................................................................................................xi Scott O. Rogers Preface.................................................................................................................... xiii Acknowledgements..................................................................................................xv Editor .....................................................................................................................xvii List of Contributors.................................................................................................xix Chapter 1 Cytogenetics and Chromosomics.........................................................1 Thomas Liehr Chapter 2 Banding Cytogenetics ..........................................................................7 Hongyan Chai and Peining Li Chapter 3 Generation of Microdissection-Derived Painting Probes from Single Copy Chromosomes................................................................27 Svetlana Romanenko and Vladimir Trifonov Chapter 4 FISH—An Overview.......................................................................... 35 Thomas Liehr Chapter 5 FISH—Microscopy and Evaluation...................................................43 Ivan Y. Iourov Chapter 6 FISH—in Routine Diagnostic Settings..............................................49 Chenghua Cui and Peining Li Chapter 7 FISH—in Leukemia Diagnostics.......................................................71 Roberto Matos, Mariana de Souza, Gerson Ferreira, Amanda Figueiredo, Marcelo Land and Maria Luiza Silva Chapter 8 FISH—in Tissues............................................................................. 105 Thomas Liehr Chapter 9 FISH—in Human Sperm and Infertility.......................................... 111 Martina Rincic and Thomas Liehr vii viii Contents Chapter 10 FISH—in Spontaneously Aborted Products of Conception ............ 117 Thomas Liehr Chapter 11 FISH—Characterization of Chromosomal Alterations, Recombination, and Outcomes after Segregation............................ 121 Ilda Patrícia Ribeiro, Eunice Matoso, Joana Barbosa Melo, Ana Jardim, Thomas Liehr and Isabel Marques Carreira Chapter 12 Multicolor-FISH—Methods and Applications................................. 151 Thomas Liehr Chapter 13 FISH—Centromere- and Heterochromatin-Specifc Multicolor Probe Sets.......................................................................157 Thomas Liehr Chapter 14 FISH—Detection of Individual Radio Sensitivity........................... 163 Thomas Liehr Chapter 15 FISH—Detection of CNVs .............................................................. 171 Tigran Harutyunyan, Anzhela Sargsyan and Rouben Aroutiounian Chapter 16 FISH—Interphase Applications Including Detection of Chromosome Instability (CIN) ........................................................ 181 Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov Chapter 17 FISH—Determination of Telomere Length (Q-FISH/CO-FISH).......................................................................... 189 Gordana Joksić, Jelena Filipović Tričković and Ivana Joksić Chapter 18 FISH—in Three Dimensions—3D-FISH ........................................ 201 Thomas Liehr Chapter 19 FISH—On Fibers.............................................................................207 Thomas Liehr Chapter 20 FISH—and Single-Cell Gel Electrophoresis Assay (Comet Assay) .................................................................................. 211 Galina Hovhannisyan, Tigran Harutyunyan and Rouben Aroutiounian Contents ix Chapter 21 Molecular Karyotyping....................................................................225 Ilda Patrícia Ribeiro, Luís Miguel Pires, Susana Isabel Ferreira, Mariana Val, Joana Barbosa Melo and Isabel Marques Carreira Chapter 22 FISH—Mitochondrial DNA ............................................................ 251 Tigran Harutyunyan Chapter 23 FISH—in Birds ................................................................................263 Rafael Kretschmer, Michelly da Silva dos Santos, Ivanete de Oliveira Furo, Edivaldo Herculano Correa de Oliveira and Marcelo de Bello Cioff Chapter 24 FISH—in Fish Chromosomes..........................................................281 Francisco de M. C. Sassi, Gustavo A. Toma and Marcelo de Bello Cioff Chapter 25 FISH—and the Characterization of Synaptonemal Complex..........297 Victor Spangenberg Chapter 26 RNA-FISH—on Lampbrush Chromosomes: Visualization of Individual Transcription Units .........................................................307 Tatiana Kulikova and Alla Krasikova Chapter 27 FISH—in Insect Chromosomes....................................................... 319 Vladimir E. Gokhman and Valentina G. Kuznetsova Chapter 28 FISH—in Plant Chromosomes......................................................... 339 Susan Liedtke, Sarah Breitenbach and Tony Heitkam Chapter 29 FISH—and CRISPR/CAS9 .............................................................. 353 Thomas Liehr Index...................................................................................................................... 357