Molecular Diagnostics

by Coleman, William B.; Tsongalis, Gregory J.

• ISBN13: 9781588293565
• ISBN10: 1588293564
• Edition: 2nd
• Format: Hardcover
• Copyright: 2010-08-13
• Publisher: Humana Pr Inc

Summary

This updated and expanded tutorial guide to molecular diagnostic techniques takes advantage of many new molecular technologies to include both improved traditional methods and totally new methods, some not yet in routine use. The authors offer cutting-edge molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing, as well as new insights into the question of quality assurance in the molecular diagnostics laboratory. Additional chapters address other technologies found in the clinical laboratory that complementary to molecular diagnostic technologies and discuss genetic counseling and the ethical and social issues involved with nucleic acid testing. A value-added compact disk containing a companion e-book version of the book, is included for downloading and use in the reader's PC or PDA.

Table of Contents

Dedication	v
Foreword	vii
Preface	ix
Color Plates	xv
Contributors	xvii
Value Added eBook Instructions	xix
Part I. Introduction
An Historical Perspective on the Clinical Diagnostic Laboratory	3	(10)
Robert E. Moore
Part II. Basic Molecular Biology
An Overview of Nucleic Acid Chemistry, Structure, and Function: The Foundations of Molecular Biology	13	(12)
William B. Coleman
Extraction of Nucleic Acids	25	(6)
Paul N. Bogner
Anthony A. Killeen
Nucleic Acid Blotting Techniques: Theory and Practice	31	(16)
Terry Amiss
Sharon Collins Presnell
The Polymerase Chain Reaction	47	(10)
William B. Coleman
Gregory J. Tsongalis
Bioinformatics: Computer-Based Approaches to Genetic Analysis	57	(8)
Sharon L. Ricketts
Part III. Molecular Diagnostic Technologies
PCR-Based Methods for Mutation Detection	65	(10)
Ian M. Frayling
Emma Monk
Rachel Butler
Alternative Methods for Amplified Nucleic Acid Testing	75	(10)
Deborah A. Payne
Laurie E. Sower
Electrophoretic Methods for Mutation Detection and DNA Sequencing	85	(26)
W. Edward Highsmith, Jr.
Single-Nucleotide Polymorphisms: Testing DNA Variation for Disease Association	111	(10)
Ulrich Broeckel
Martin J. Hessner
Microarray Approaches to Gene Expression Analysis	121	(28)
David Neil Hayes
Matthew Meyerson
Methods for Analysis of DNA Methylation	149	(14)
Alexander Dobrovic
Part IV. Other Clinical Diagnostic Technologies
Flow Cytometry	163	(10)
Joseph A. DiGiuseppe
Medical Cytogenetics	173	(16)
Martha B. Keagle
Fluorescence In Situ Hybridization: A Major Milestone in Luminous Cytogenetics	189	(14)
Suneel D. Mundle
Robert J. Koska
Immunohistochemistry	203	(16)
John Hunt
Larissa Davydova
Richard W. Cartun
Maria Baiulescu
Laser Capture Microdissection	219	(8)
C. Robert Bagnell, Jr.
Part V. Quality Assurance in the Molecular Diagnostics Laboratory
Framework for Quality Assurance in Molecular Diagnostics	227	(10)
Marlene Sabbath-Solitare
Selwyn J. Baptist
Teresita Cuyegkeng Redondo
Verification of Molecular Assays	237	(6)
Brent L. Seaton
Standards and Standardization of Molecular Diagnostics	243	(4)
John P. Jakupciak
Catherine D. O'Connell
Laboratory-Developed Tests in Molecular Diagnostics	247	(12)
Andrea Ferreira-Gonzalez
Carleton T. Garrett
Part VI. Applications of Molecular Diagnostics for Genetic Diseases
An Overview of Molecular Genetics	259	(8)
Elaine Weidenhammer
Gregory J. Tsongalis
Genetic Basis of Neurologic and Neuromuscular Diseases	267	(14)
Narasimhan Nagan
Christopher J. Klein
D. Brian Dawson
Myra J. Wick
Stephen N. Thibodeau
Molecular Mechanisms of Endocrine Disorders	281	(14)
Amy Potter
John A. Phillips III
Molecular Pathogenesis of Cardiovascular Disease	295	(16)
Alan H. B. Wu
Molecular Diagnostics in Coagulation	311	(10)
Enrique Ballesteros
Cystic Fibrosis	321	(8)
Eugene H. Lewis III
Myra J. Lewis
Jean A. Amos
Gregory J. Tsongalis
Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disorders	329	(12)
Martin J. Hessner
Brian R. Curtis
Personalized Medicine	341	(8)
Karen McCullough
Part VII. Applications of Molecular Diagnostics for Human Cancers
Molecular Pathogenesis of Human Cancer	349	(26)
William B. Coleman
Gregory J. Tsongalis
Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer	375	(18)
Ian M. Frayling
Lisa Happerfield
Christopher Mattocks
Kim Oakhill
Mark J. Arends
Molecular Genetic Applications to the Diagnosis of Lymphoma	393	(22)
William N. Rezuke, Jr.
Gregory J. Tsongalis
Molecular Genetic Abnormalities in Acute and Chronic Leukemias	415	(22)
Pei Lin
L. Jeffrey Medeiros
Part VIII. Applications of Molecular Diagnostics for Infectious Diseases
Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeae	437	(10)
Alexandra Valsamakis
Human Papillomavirus	447	(6)
Theresa M. Voytek
Gregory J. Tsongalis
Molecular Diagnosis for HIV-1	453	(8)
Angela M. Caliendo
Charles E. Hill
Hepatitis C	461	(12)
D. Robert Dufour
Cytomegalovirus	473	(12)
Angela M. Caliendo
Nell S. Lurain
Part IX. Applications of Molecular Diagnostics for Identity--Based Testing
HLA Typing Using Molecular Methods	485	(10)
John L. Schmitz
Molecular Analysis for Forensic Casework and Parentage Testing	495	(16)
Tracey Dawson Cruz
Molecular Assessment of Bone Marrow Transplant Engraftment	511	(6)
Jessica K. Booker
Use of DNA-Based Identity Testing for Specimen Identification	517	(8)
Andrew Ricci Jr.
Gregory J. Tsongalis
Part X. Issues for the Clinical Molecular Pathology Laboratory
Genetic Counseling Considerations in Molecular Diagnosis	525	(20)
Myra I. Roche
Ethical, Social, and Legal Issues Related to Molecular Genetic Testing	545	(10)
Jennifer L. Herbst
Jon F. Merz
Index	555