Molecular Diagnostics: Fundamentals, Methods and Clinical Applications.

577 Pages·2012·30.662 MB·English

by  Lela Buckingham

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Appendix
QUICK VISUAL REFERENCE FOR COMMON
TECHNIQUES IN MOLECULAR BIOLOGY
40.00
107 copies
106 copies 35.00
100 105 copies 30.00
104 copies C)
103 copies e ( 25.00
Rn 10 110021 ccooppiieess d cycl 20.00 Y = –3.345(x) + 38.808
eshol 15.00 R2 = 0.9983
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A Cycle B Starting quantity (copies/rxn)
■ Quantitative PCR
A
C
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Probes hybridized
Cell nucleus T
to chromosomes
Normal cell (diploid) Triploid Deletion
■ FISH analysis for normal diploid cell (left),triploidy (center),
and deletion (right) G A T T C T G A A T T A G C T G T A T C G
C5 : YGYGTTTATGYGAGGTYGGGTGGGYGGGTYGTTAGTTTYG
0% 0% 1% 0% 1% 1% 1%
1200
1000 N N T T S T G N M A T Y N K C T K N A T C G
800 ■ Examples of good sequence quality (top)
600
400 and poor sequence quality (bottom)
200
0
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ESGTCTGTCGTATAGTCGATGTCGTAGTCTGTCGTATGTTC
5 10 15 20 25 30 35
A4 : YGYGTTTATGYGAGGTYGGGTGGGYGGGTYGTTAGTTTYG
37% 1% 33% 38% 42% 46% 46%
1500
1000
500
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ESGTCTGTCGTATAGTCGATGTCGTAGTCTGTCGTATGTTC
5 10 15 20 25 30 35
■ DNA methylation at cytosine residues detected by pyrosequencing
of bisulfite-treated DNA
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Molecular
Diagnostics
Fundamentals, Methods
and Clinical Applications
Second Edition
i
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Molecular
Diagnostics
Fundamentals, Methods
and Clinical Applications
Second Edition
Lela Buckingham,PhD,MB,DLM (ASCP)
Unit Director, Molecular Oncology
Department of Pathology
Rush Medical Laboratories
Rush University Medical Center
Chicago, Illinois
iii
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Library of Congress Cataloging-in-Publication Data
Buckingham,Lela.
Molecular diagnostics :fundamentals,methods,and clinical applications /
Lela Buckingham. — 2nd ed.
p. ; cm.
Includes bibliographical references and index.
ISBN-13:978-0-8036-2677-5
ISBN-10:0-8036-2677-0
1. Molecular diagnosis. I. Title.
[DNLM:1. Molecular Diagnostic Techniques—methods. 2. Nucleic
Acids—analysis. QY 25]
RB43.7.B83 2012
616.9’041—dc23
2011024996
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To my brother, John.
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Preface
Molecular Technology has been incorporated into diag- diagnostic tests that they will be ordering and assessing
nostic testing in a relatively short period. Programs that for their patients.
educate clinical laboratory professionals have had to in- Students who are first learning about molecular-based
tegrate molecular diagnostic testing into their curricula assays will find this text useful for explaining the princi-
just as rapidly despite a lack of formal resources. This ples. Practitioners who are performing and interpreting
textbook was written to address these concerns. these assays can use this text as a resource for reference
The primary audience for this text is students enrolled and troubleshooting and to drive the implementation of
in Clinical Laboratory Science/Medical Technology pro- additional molecular-based assays in their laboratory.
grams at all levels. The textbook explains the principles An Instructor’s Resource package has been developed
of molecular technology that are used for diagnostic pur- for educators who adopt this text for a course. These
poses. Examples of applications of molecular-based resources, which include a Brownstone test generator,
assays are included in the text as well as case studies that image bank, and PowerPoint presentation, are available
illustrate the use and interpretation of these assays in on CD-ROM and on DavisPlus at http://davisplus.
patient care. fadavis.com. Educators should contact their F.A. Davis
This textbook is also appropriate for those in other Sales Representative to obtain access to the Instructor’s
health-related disciplines who have to understand the Resources.
purpose, principle, and interpretation of molecular Lela Buckingham,PhD,MBCM,DLMCM(ASCP)
vii
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