SPRINGER LAB MANUALS Springer-Verlag Berlin Heidelberg GmbH Bernd W. Rautenstrauß Thomas Liehr (Eds.) FISH Technology With 78 Figures, 44 in colour Springer BERND W. RAUTENSTRAUSS Institut für Humangenetik Universität Erlangen-Nürnberg Schwabachanlage 10 91054 Erlangen Germany e-mail: [email protected] THOMAS LIEHR Institut für Humangenetik Universität Jena Kollegiengasse 10 077743 Jena Germany e-mail: [email protected] Library of Congress Cataloging-in-Publication Data FISH technology / Bernd W. Rautenstrauss, Thomas Liehr (eds.) p. cm. - (Springer lab manuals) Includes bibliographical references. ISBN 978-3-642-47739-3 ISBN 978-3-642-56404-8 (eBook) DOI 10.1007/978-3-642-56404-8 I. Fluorescence in situ hybridization ~ Laboratory manuals. I. Rautenstrauss, Bernd W., 1959 - II. Liehr, Thomas, 1965- III. Springer lab manual. QP519.9.F56.F574 2002 572.8*028*4-0021 This work is subject to copyright. 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Violations are liable for prosecution under the German Copyright Law. © Springer-Verlag Berlin Heidelberg 2002 Originally published by Springer-Verlag Berlin Heidelberg New York in 2002 Softcover reprint of the hardcover 1 st edition 2002 http://www.springer.de The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and reg ulations and therefore free for general use. Product liability: The publisher cannot guarantee the accuracy of any information about dosage and application thereof contained in this book. In every individual case the user must check such information by consulting the relevant literature. Production: PRO EDIT GmbH, 69126 Heidelberg, Germany Cover design: design & production GmbH, 69121 Heidelberg, Germany Typesetting: Mitterweger + Partner, 68723 Plankstadt, Germany SPIN 10674102 39/3130S0 5 4 3 2 1 0 - Printed on acid free paper Preface Thefluorescenceinsituhybridization (FISH) techniquehas nowadaysbe comeapowerfulandversatiletool inclinicalgenetics,tumorcytogenetics andscience.Inventedinthe1970'sthereweremanyproblemstoovercome in working out the methodology. However, the technique is now estab lished in manycytogenetic and otherclinicallyorientated routine labora tories as well as in many research facilities allover the world. Thisbookispartofaseriesoflabmanualsprovidingpracticalaspectsof technologiesusedinbiology,medicineandgenetics.Asinmanycasespub lished methods are incomplete or refer back to series ofpreviously pub lishedpapers,onegoalofthislabmanualforFISHistoprovidealaboratory handbook that will facilitate research in connection with fluorescence in situ hybridization approaches. Thelabmanualfor FISH aimstoprovidearesourceforboththenovice scientistaswellasforthosemoreexperiencedinvestigatorsseekingtoex tend their technological base. Thus, apart from the basic technology and routine applications of FISH, also more sophisticated approaches have been included into this booklet, like e.g. Fiber FISH, Yeast FISH, FISH incombinationwithimmunohistochemistryorstylishmulticolor-FISHas says.Alsofuture aspectsoffurther developmentsofthefield ofmolecular cytogeneticsarecovered.Thechaptersdealingwiththerecentlydeveloped FISH techniquescentromere-specificmulticolor FISHorthe microdissec tion basedmulticolorbandingmethod demonstrate, that the possibilities ofthis field still did not draw to a close. Wewouldliketoexpressourgratitudetoallthosewhohavecontributed to thisbooklet! Moreover,wearegratefultoSpringer-Verlagforaskingus toputtogethertheseprotocolsofthestateoftheart,andlatestadvancesin this exciting and inspiring field ofmolecular cytogenetics. Jena, July 2001 THOMAS LIEHR, PhD Erlangen, July 2001 BERND RAUTENSTRAUSS, PhD List of Contents The Standard FISH Procedure - an Introduction Chapter 1 FISH Techniques, FISH Probes and Their Applications in Medicine and Biology - An Overview . . . . . . . . . . . 3 EIGIL KJELDSEN, and STEEN K0LVRAA Chapter 2 Microscopy and Imaging Systems 51 ANDREAS PLESCH FISH on Native, Human Tissues Chapter 3 FISH on Chromosome Preparations ofPeripheral Blood ........................... 73 THOMAS LIEHR and UWE CLAUSSEN Chapter 4 FISH on Uncultured Blood or Bone Marrow ...•.... 82 THOMAS LIEHR Chapter 5 FISH on Blood or Bone Marrow Smears ........... 90 THOMAS LIEHR Chapter 6 Epithelial Cells from Buccal Smears and Urine 97 ANITA RAUCH Chapter 7 FISH on Hair Root Cells ....................... 109 THOMAS LIEHR ............... Chapter 8 Amniotic Fluid Cells - Uncultured 115 RENATE ULMER Chapter 9 Human Sperm Cells ........................... 127 ANITA RAUCH VIII List ofContents FISH on Archival, Human Tissues Chapter 10 Archival Cytogenetic Slides 141 ERICH GEBHART Chapter 11 Formalin-Fixed and Paraffin-Embedded Tissue Sections 148 CHRISTINE SOMMERLAD, YASMIN MEHRAEIN. MARINA GIERSBERG, KERSTEN MARBEN, HARALD RIEDER, and HELGA REHDER Chapter 12 Nucleus Extraction from Formalin Fixed/paraffin Embedded Tissue . . . . . . . . . . . . . . ... 162 THOMAS LIEHR Chapter 13 Combined in Situ Nick Translation and mRNA FISH for Simultaneous Detection ofApoptosis and Expression ofApoptosis-Related Genes in Sections from Paraffin-Embedded Tissue 171 NORBERT HECKMANN Chapter 14 Nucleus Extraction from Cryofixed Tissue 176 BERND RAUTENSTRAUSS, and THOMAS LIEHR Chapter 15 Preparation ofSamples for CGH byDOP-PCR from Cryofixed or Paraffin-Embedded, Microdissected Cells 185 VOLKER JUNG and GEORG A. WEBER Chapter 16 Comparative Genomic Hybridization 197 BURT G. FEUERSTEIN, YUICHI HIROSE, MALGORZATA PELLARIN, and GREGG MAGRANE Special FISH Techniques (Fiber-FISH, PNA-FISH, Co-FISH, NU-FISH) Chapter 17 High Resolution FISH ofStretched Chromosome Fibers 221 BERND RAUTENSTRAUSS and CHRISTINA FUCHS Chapter 18 Quantitative DNA Fiber Mapping 226 HEINZ-ULRICH G. WEIER Chapter 19 PNA-FISH 254 WILLIAM M. STRAUSS List ofContents IX Chapter 20 Strand-Specific Fluorescence in Situ Hybridization: CO-FISH and COD-FISH 262 JULIANNE MEYNE, SUSAN M. BAILEY, and EDWIN H. GOODWIN Chapter 21 The Combined Use ofNuclease in Situ Digestion and FISH (NU-FISH) 272 JAIME GOSALVEZ, JOAQUINA DE LA TORRE, CARMEN LOPEZ-FERNANDEZ, and JosE LUIS FERNANDEZ Chapter 22 DNA Breakage Detection-FISH (DBD-FISH) 282 JosE LUIS FERNANDEZ, VICENTE GoYANES, and JAIME GosALvEz Chapter 23 Detection ofRadiosensitivity byMeans ofThree-Color FISH 291 SUSANN NEUBAUER Chapter 24 Fluorescence in Situ Hybridisation ofa Complete Set of41 Telomere Specific Probes in a Single Simultaneous Hybridisation Experiment Using the Chromoprobe Multiprobe System-T 301 MARTIN LAWRIE, MARIA OCANA GIL, and DON CARDY FISH in Zoology and Virology Chapter 25 Zoo-FISH .......•........................... 309 HARRY SCHERTHAN Chapter 26 FISH on Insect Cells Transfected with Heterologous DNA 323 THOMAS LIEHR Chapter 27 Yeast FISH: Delineation ofChromosomal Targets in Vegetative and Meiotic Yeast Cells 329 HARRY SCHERTHAN and EDGAR TRELLES-STICKEN Chapter 28 In Situ Detection ofViral Nucleic Acids by Chemiluminescence 346 MONICA MUSIANI, PATRIZIA PASINI, ALDO RODA, and MARIALUISA ZERBINI X List ofContents Multicolor FISH Applications Chapter 29 Spectral Imaging Analysis ofMetaphase and Interphase Cells 363 JINGLY FUNG, HEINZ-ULLI G. WEIER, ROGER A. PEDERSEN, and HORST F. ZITZELSBERGER Chapter 30 Microdissection ofChromosomes and Reverse FISH 388 ILSE CHUDOBA and GABRIELE SENGER Chapter 31 Multicolor FISH Techniques for the Detection ofInter- and Intrachromosomal Rearrangements . . .. 408 HORST ZITZELSBERGER, BENJAMIN O'BRIEN, and HEINZ-ULRICH WEIER Chapter 32 Centromere-Specific Multicolor-FISH (cenM-FISH) .. 425 ANGELA NIETZEL, ANITA HELLER, HElKE STARKE, UWE CLAUSEN, and THOMAS LIEHR Chapter 33 Simultaneous Multicolor-FISH and Immunocyto- chemical Analysis ofFresh Tumor Material 432 HElKE STEILEN-GIMBEL and STEFFI URBSCHAT Chapter 34 Simultaneous Fluorescence Immunophenotyping and FISH (FICTION) ...............•.......... 442 BRIGITTE SCHLEGELBERGER, STEFAN GESK, YANMING ZHANG, and REINER SIEBERT Not FISH but Almost Chapter 35 PRINS: Hybridization and Primed in Situ Labeling in One Step 463 JORN KocH Chapter 36 Microarrays and DNA-Chips in the Analysis ofGenetic Abberrations 473 UWE R. MULLER, Y. PAUL BAO, GUANGSHAN LI, XINYING XIE, and NALINI RAGHAVACHARI Appendix . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 485 Subject index . . . . . . . . .. . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . .. 487 Part A The Standard FISH Procedure an Introduction