Molecular protocols in transfusion medicine

197 Pages·2000·4.986 MB·English

by  Gregory A Denomme, Maria Rios, Marion E Reid

Molecular Protocols in
Transfusion Medicine
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Molecular Protocols in
Transfusion Medicine
Gregory A. Denomme, PhD
Assistant Scientist, Pathology and Laboratory Medicine,
Mount Sinai Hospital, and The Canadian Blood Services,
Toronto
Maria Rios, PhD
Manager, Science and Technology Laboratory
New York Blood Center, New York
Marion E. Reid, PhD
Head, Immunochemistry Laboratory
New York Blood Center, New York
ACADEMIC PRESS
A Harcourt Science and Technology Company
San Diego San Francisco New York Boston
London Sydney Tokyo
This book is printed on acid-free paper.
Copyright © 2000 by ACADEMIC PRESS
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.
Academic Press
A Harcourt Science and Technology Company
32 Jamestown Road, London NW1 7BY, UK
http://www.academic press.com
Academic Press
A Harcourt Science and Technology Company
525 B Street, Suite 1900, San Diego, California 92101-4495, USA
http://www.academic press.com
ISBN 0-12-209370-4
A catalogue for this book is available from the British Library
Typeset by Phoenix Photosetting, Chatham, Kent
Printed in Great Britain by Redwood Books, Trowbridge, Wiltshire
00 01 02 03 04 05 RB 9 8 7 6 5 4 3 2 1
CONTENTS
(cid:9)
Preface vii
(cid:9)
List of Abbreviations ix
Part 1: Introduction(cid:9) 1
1.1 Background(cid:9) 1
1.2 Aim, Scope and Purpose of the Book(cid:9) 2
1.3 Organization of the Book(cid:9) 3
1.4 Terminology(cid:9) 4
1.5 Regulatory Compliance(cid:9) 5
1.6 References(cid:9) 6
Part 2: General Considerations(cid:9) 9
2.1 Clinical Information(cid:9) 9
2.2 Basic Principles of Molecular Analysis(cid:9) 9
2.3 Troubleshooting(cid:9) 16
2.4 References(cid:9) 18
Part 3: Protocols(cid:9) 19
3.1 Sample Shipment and Storage(cid:9) 19
3.2 Reagents(cid:9) 19
3.3 Harvesting WBCs by RBC Sedimentation(cid:9) 19
3.4 Short-term Cell Cultures from Amniotic Fluid(cid:9) 21
3.5 Cultured Amniocyte Cell Harvesting(cid:9) 23
3.6 Cell Preparation and DNA Extraction(cid:9) 24
3.7 Assessment of DNA Quality, Quantity and Purity(cid:9) 27
3.8 PCR Amplification(cid:9) 29
3.9 Restriction Enzyme Digestion for PCR-RFLP
Analysis(cid:9) 34
3.10 Allele-specific PCR(cid:9) 35
vi(cid:9) Contents
3.11 Agarose Gel Preparation and Electrophoresis(cid:9) 38
3.12 Acrylamide Gel Preparation and Electrophoresis(cid:9) 41
3.13 Single-strand Conformation Polymorphism (SSCP)(cid:9) 43
3.14 Optimizing a PCR(cid:9) 46
3.15 Gene Zygosity Assessment by Quantitative
PCR Amplification(cid:9) 50
3.16 VNTR and STR Analysis by PCR Amplification(cid:9) 53
3.17 Multiplex PCR Analysis(cid:9) 57
3.18 Southern Analysis(cid:9) 60
3.19 References(cid:9) 65
Part 4: Red Cell Blood Groups(cid:9) 67
4.1 Terminology(cid:9) 67
4.2 Clinical Applications(cid:9) 67
4.3 Situations where Genotype and Phenotype do
not Agree(cid:9) 71
4.4 References(cid:9) 73
4.5 Facts Sheets, Gene Maps and Molecular Protocols(cid:9) 75
Part 5: Platelet Blood Groups(cid:9) 141
5.1 Terminology(cid:9) 141
5.2 Clinical Applications(cid:9) 142
5.3 References(cid:9) 145
5.4 Facts Sheets, Gene Maps and Molecular Protocols 146
Part 6: Neutrophil Blood Groups(cid:9) 163
6.1 Terminology(cid:9) 163
6.2 Clinical Applications(cid:9) 164
6.3 References(cid:9) 165
6.4 Facts Sheets, Gene Maps and Molecular Protocols 166
Part 7: Appendices(cid:9) 171
7.1 Database Information(cid:9) 171
7.2 Glossary(cid:9) 172
7.3 References(cid:9) 174
7.4 Works Sheets and Request Forms(cid:9) 175
Index(cid:9) 181
Useful Tables(cid:9) 185
PREFACE
The understanding of the genetic basis for blood group systems has
expanded enormously over the past 5 years. This manual is a com-
pendium of genetic polymorphisms for blood group antigens relevant for
transfusion medicine and the techniques to detect them. We encourage
comments from readers on errors, omissions, and suggestions for
consideration for inclusion in the next edition. Please write to the Editor,
Molecular Protocols in Transfusion Medicine, Harcourt Publishing
Limited, Harcourt Place, 32 Jamestown Road, London NW1 7BY, UK,
or to Marion Reid, Immunochemistry Laboratory, New York Blood
Center, 310 East 67th Street, New York, NY 10021, USA (E-mail:
[email protected]).
We are indebted to Christine Lomas-Francis and Jill Storry for
critically reading the manuscript and making valuable suggestions. We
appreciate the enthusiasm and help from Tessa Picknett and Lilian
Leung. We are indebted to Robert Ratner for preparing the manuscript
and figures.
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LIST OF ABBREVIATIONS
ACD(cid:9) Acid citrate dextrose
A, C, G, T Adenine, cytidine, guanidine, thymidine nucleotides
AS-PCR(cid:9) Allele-specific polymerase chain reaction
CAP(cid:9) College of American Pathologists
cGLP(cid:9) Current good laboratory practice
DAT(cid:9) Direct antiglobulin test
dd H20(cid:9) Deionized distilled H20
dNTP(cid:9) Deoxyribonucleotide triphosphates
DNA(cid:9) Deoxyribonucleic acid
EDTA(cid:9) Ethylenediamine tetraacetic acid
FBS(cid:9) Fetal bovine serum
FDA(cid:9) Food and Drug Administration
HDN(cid:9) Haemolytic disease of the newborn
HLA(cid:9) Human leukocyte antigen
HPA(cid:9) Human platelet antigen
ISBT(cid:9) International Society of Blood Transfusion
MSDS(cid:9) Material Safety Data Sheets
NA(cid:9) Neutrophil antigen
NATP(cid:9) Neonatal alloimmune thrombocytopenic purpura
OD(cid:9) Optical density
PBS(cid:9) Phosphate buffered saline
PCR(cid:9) Polymerase chain reaction
RBC(cid:9) Red blood cell
RFLP(cid:9) Restriction fragment length polymorphism
RNA(cid:9) Ribonucleic acid
RPMI(cid:9) Roswell Park Medical Institute (Tissue Culture Media)
SD(cid:9) Standard deviation
STR(cid:9) Short tandem repeat
TAE(cid:9) Tris-acetate EDTA
TEMED(cid:9) N,N,N',N'–Tetramethylethilenediamine