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Molecular Diagnostics
1st Edition - June 6, 2005
Editors: George P. Patrinos, Wilhelm Ansorge
Language: English
Hardback ISBN:9780125466615
9 7 8 - 0 - 1 2 - 5 4 6 6 6 1 - 5
eBook ISBN:9780080473505
9 7 8 - 0 - 0 8 - 0 4 7 3 5 0 - 5
Molecular Diagnostics covers current molecular biological techniques used to identify the underlying molecular defects in inherited disease. Although an increasing number of labora…Read more
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Molecular Diagnostics covers current molecular biological techniques used to identify the underlying molecular defects in inherited disease. Although an increasing number of laboratories, both academic and private are moving in that direction, there are only a few books in the existing literature, and they deal only partly with diagnosis at the molecular level. Each chapter includes the principle and a brief description of the technique, followed by exmples from the authors' own epertise. Contributors are well-known experts in their field, and derive from a variety of disciplines, to ensure breadth and depth of coverage.
Examines widely used molecular biology techniques to screen for genetic defects causing inherited disorders
Includes state-of-the-art techniques for the detection of the underlying genetic heterogeneity leading to inherited disorders
Identification of genetically modified organisms (GMO's)
Forensic analysis and every-day issues in a diagnostic laboratory
Discusses ethics, genetic counselling and quality management
Postgraduate students, researchers, physicians and practicing scientists in molecular genetics; professionals from similar backgrounds working in diagnostic laboratories in academia or industry; academic institutions and hospital libraries
List of Contributors
Foreword
Preface
Chapter 1: Molecular Diagnostics: Past, Present, and Future
1.1 INTRODUCTION
1.2 HISTORY OF MOLECULAR DIAGNOSTICS: INVENTING THE WHEEL
1.3 THE PCR REVOLUTION: GETTING MORE OUT OF LESS
1.4 MOLECULAR DIAGNOSTICS IN THE POST-GENOMIC ERA
1.5 FUTURE PERSPECTIVES: WHAT LIES BEYOND
1.6 CONCLUSIONS
Section I: Molecular Diagnostic Technology
Chapter 2: Allele-Specific Mutation Detection by PCR-ARMS and PCR-ASO
2.1 INTRODUCTION
2.2 PCR-ARMS
2.3 PCR-ASO
Chapter 3: Competitive Oligopriming
3.1 INTRODUCTION
3.2 THE COMPETITIVE OLIGOPRIMING ASSAY
3.3 APPLICATION OF COP ASSAY FOR β-THALASSEMIA MUTATIONS
3.4 LIMITATIONS OF THE COP ASSAY
3.5 MULTIPLEX COP ASSAY
3.6 DEVELOPMENT OF COMPETITIVE OLIGOPRIMING WITH A 3′ END MISMATCH
3.7 HIGH-THROUGHPUT APPROACHES
3.8 CONCLUSIONS
Chapter 4: Oligonucleotide Ligation Assays for the Diagnosis of Inherited Diseases
4.1 INTRODUCTION
4.2 HISTORY OF OLIGONUCLEOTIDE LIGATION ASSAYS
4.3 PRINCIPLE OF THE OLIGONUCLEOTIDE LIGATION ASSAY
4.4 DETECTION METHODS FOR LIGATED OLIGONUCLEOTIDES
4.5 ADVANTAGES AND LIMITATIONS OF OLIGONUCLEOTIDE LIGATION ASSAYS
4.6 PCR-OLA APPLICATIONS FOR THE DIAGNOSIS OF INHERITED DISORDERS
Chapter 5: Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation
5.1 INTRODUCTION
5.2 CHEMICAL PROPERTIES OF MISMATCHES
5.3 CHEMICAL CLEAVAGE OF MISMATCH METHOD FOR MUTATION DETECTION
5.4 ADVANTAGES AND LIMITATIONS
5.5 ENZYMATIC CLEAVAGE OF MISMATCH METHODS
5.6 CONCLUSIONS
Chapter 6: Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis
6.1 INTRODUCTION
6.2 PRINCIPLES OF SINGLE STRAND CONFORMATION POLYMORPHISM ANALYSIS
6.3 HETERODUPLEX ANALYSIS FOR MUTATION DETECTION
6.4 SENSITIVITY AND LIMITATIONS
6.5 DETECTION OF THE UNDERLYING GENOMIC VARIATION USING SSCP AND HDA
6.6 CONCLUSIONS AND FUTURE ASPECTS
Chapter 7: Capillary Electrophoresis
7.1 INTRODUCTION
7.2 HISTORY, PRINCIPLE, AND POTENTIAL APPLICATIONS OF CAPILLARY ELECTROPHORESIS
7.3 CAPILLARY ELECTROPHORESIS IN MOLECULAR DIAGNOSTICS
7.4 MODES OF APPLICATION
7.5 SPECIFIC DIAGNOSTIC APPLICATIONS
7.6 FUTURE IMPROVEMENTS
Chapter 8: Temperature and Denaturing Gradient Gel Electrophoresis
8.1 INTRODUCTION
8.2 THE THEORY OF TEMPERATURE-GRADIENT GEL ELECTROPHORESIS
8.3 THE PRACTICE OF TEMPERATURE-GRADIENT GEL ELECTROPHORESIS
8.4 DENATURING GRADIENT GEL ELECTROPHORESIS (DGGE)
8.5 THE USE OF TGGE/DGGE FOR MUTATION DETECTION
8.6 DETECTION RATE AND SENSITIVITY
8.7 RELATED TECHNIQUES AND VARIANTS
8.8 TECHNICAL EQUIPMENT FOR TGGE/DGGE
8.9 APPLICATIONS OF TGGE/DGGE AND RELATED METHODS
8.10 CONCLUSIONS
Acknowledgments
Chapter 9: Two-Dimensional Gene Scanning
9.1 INTRODUCTION
9.2 STATISTICAL STRATEGIES TO IDENTIFY HUMAN DISEASE GENES
9.3 CANDIDATE PATHWAY APPROACH
9.4 DENATURING GRADIENT GEL ELECTROPHORESIS (DGGE)
9.5 TWO-DIMENSIONAL GENE SCANNING
9.6 MULTIPLEX PCR AMPLIFICATION
9.7 COMPUTER-AUTOMATED DESIGN OF TDGS TESTS
9.8 IDENTIFICATION OF SEQUENCE VARIANTS AND HAPLOTYPING: BRCA1 AS AN EXAMPLE
9.9 PROSPECTS FOR ROUTINE APPLICATION OF TDGS
Acknowledgments
Chapter 10: Real-Time Polymerase Chain Reaction
10.1 HISTORY OF PCR
10.2 PRINCIPLE OF REAL-TIME PCR
10.3 REAL-TIME THERMAL CYCLERS
10.4 HOW DATA ARE OBTAINED
10.5 HOW DATA ARE QUANTIFIED
10.6 MULTIPLEX REAL-TIME PCR
10.7 APPLICATIONS IN MOLECULAR DIAGNOSTICS
10.8 CRITERIA FOR DEVELOPING REAL-TIME PCR ASSAYS
10.9 CONCLUSIONS
Chapter 11: Pyrosequencing
11.1 INTRODUCTION
11.2 TECHNOLOGY OVERVIEW
11.3 APPLICATIONS OF PYROSEQUENCING
11.4 CONCLUSIONS
Chapter 12: Molecular Cytogenetics in Molecular Diagnostics
12.1 INTRODUCTION
12.2 FROM CONVENTIONAL TO MOLECULAR CYTOGENETICS
12.3 FLUORESCENCE IN SITU HYBRIDIZATION
12.4 BASIC TECHNICAL ELEMENTS AND MATERIALS
12.5 TYPES OF FISH PROBES AND RECENT FISH APPROACHES FOR METAPHASE AND INTERPHASE FISH
Chapter 16: Human Genome Microarray in Biomedical Applications
16.1 INTRODUCTION
16.2 PRODUCTION OF THE HUMAN GENOME MICROARRAY
16.3 DATA ANALYSIS, DATABASES, AND DATA MANAGEMENT
16.4 APPLICATIONS OF THE HUMAN GENOME MICROARRAY
16.5 SUMMARY AND PERSPECTIVES
Chapter 17: Use of High Throughput Mass Spectrographic Methods to Identify Disease Processes
17.1 INTRODUCTION
17.2 MASS SPECTROGRAPHIC APPROACHES TO IDENTIFY PROTEIN PATTERNS ASSOCIATED WITH DISEASES
17.3 THEORETICAL CONSIDERATIONS OF SELDI-TOF-MS
17.4 APPLICATION OF SELDI-TOF-MS IN THE EARLY DETECTION OF CANCER
17.5 SUMMARY
Acknowledgements
Chapter 18: The Application of Proteomics to Disease Diagnostics
18.1 INTRODUCTION
18.2 APPLICATIONS OF 2D PAGE TO DISEASE INVESTIGATIONS
18.3 NOVEL GEL AND NONGEL STRATEGIES FOR DISEASE INVESTIGATIONS
18.4 DIAGNOSTIC APPLICATIONS OF MASS SPECTROMETRY
18.5 CLINICAL APPLICATIONS OF PROTEIN MICROARRAYS
18.6 CONCLUSIONS
Section II: Applications of Molecular Diagnostics and Related Issues
Chapter 19: Identification of Genetically Modified Organisms
19.1 INTRODUCTION AND HISTORICAL PERSPECTIVE
19.2 SAMPLING PLANS
19.3 CERTIFIED REFERENCE MATERIAL
19.4 PROTEIN-BASED TESTING METHODS
19.5 DNA-Based Testing Methods
19.6 NEAR-INFRARED (NIR) TECHNOLOGY
19.7 CONCLUSIONS
Chapter 20: Pharmacogenetics and Pharmacogenomics: Impact on Drug Discovery and Development
20.1 INTRODUCTION
20.2 DEFINITION OF TERMS
20.3 LONG-TERM TIMEFRAME: CAUSATIVE TARGETS ADDRESSING DERANGED FUNCTION DIRECTLY
20.4 MID-TERM TIMEFRAME— PHARMACOGENOMICS/TOXICOGENOMICS: FINDING NEW MEDICINES QUICKER AND MORE EFFICIENTLY
20.5 SHORT-TERM TIMEFRAME—PHARMACOGENETICS: MORE TARGETED, MORE EFFECTIVE MEDICINES
20.6 INCORPORATING PHARMACOGENETICS INTO DRUG DEVELOPMENT STRATEGY
20.7 REGULATORY ASPECTS
20.8 PHARMACOGENETIC TESTING FOR DRUG EFFICACY VS SAFETY
20.9 CHALLENGE—GENETICS AND SOCIETY: ETHICAL, LEGAL, AND SOCIETAL ISSUES
20.10 SUMMARY
Acknowledgements
Chapter 21: Molecular Diagnostic Applications in Forensic Science
21.1 INTRODUCTION
21.2 GENERAL CHARACTERISTICS OF Y-CHROMOSOME MARKERS
21.3 METHODOLOGY
21.4 CASE EXAMPLES
21.5 MITOCHONDRIAL DNA MARKERS ANALYSIS IN FORENSIC SCIENCE
21.6 LEGAL ADMISSIBILITY
21.7 CONCLUSIONS
Acknowledgements
Chapter 22: Molecular Diagnostics and Comparative Genomics in Clinical Microbiology
22.1 INTRODUCTION
22.2 TECHNOLOGICAL IMPROVEMENTS
22.3 PERSISTING PROBLEMS WITH MOLECULAR DIAGNOSTICS
22.4 MOLECULAR VIRUS DETECTION
22.5 EXAMPLES FROM BACTERIOLOGY
22.6 FUTURE PERSPECTIVES
22.7 CONCLUDING REMARKS
Chapter 23: Preimplantation Genetic Diagnosis
23.1 WHAT IS PREIMPLANTATION GENETIC DIAGNOSIS?
23.2 INDICATIONS FOR PGD
23.3 TECHNOLOGIES USED IN PGD
23.4 OUTCOME OF PGD
23.5 CONCLUSIONS
Chapter 24: Genetic Monitoring of Laboratory Animals
24.1 INTRODUCTION
24.2 THE CONTROL OF GENETIC QUALITY
24.3 MONITORING THE GENETIC QUALITY OF INBRED STRAINS
24.4 PRESERVING THE GENETIC PURITY OF INBRED STRAINS
24.5 CONTROLLING THE GENETIC STANDARD OF OUTBRED STOCKS
24.6 THE CONTROL OF HEALTH STATUS
24.7 CONCLUSIONS
Chapter 25: The Use of Locus-Specific Databases in Molecular Diagnostics
25.1 INTRODUCTION
25.2 WHY A LOCUS-SPECIFIC DATABASE IS REQUIRED FOR DIAGNOSIS
25.3 SELECTING THE PROPER LOCUS-SPECIFIC DATABASE
Chapter 26: Safety Analysis in Retroviral Gene Therapy: Identifying Virus Integration Sites in Gene-Modified Cells
26.1 INTRODUCTION
26.2 METHODS USED TO DETECT RETROVIRAL INTEGRATION SITES
26.3 IDENTIFYING VIRUS INTEGRATION SITES BY FLUORESCENCE IN SITU HYBRIDIZATION
26.4 IDENTIFYING VIRUS INTEGRATION SITES BY LIGATION-MEDIATED PCR
26.5 IDENTIFYING VIRUS INTEGRATION SITES USING ARBITRARY PRIMER PCR
26.6 CONCLUSIONS
Acknowledgments
Chapter 27: Automated DNA Hybridization and Detection
27.1 INTRODUCTION
27.2 DNA HYBRIDIZATION
27.3 DNA EXTRACTION
27.4 QUANTIFYING DNA
27.5 ROBOTICS
27.6 REVERSE DOT BLOT
27.7 5′ NUCLEOTIDASE (TAQMAN) ASSAYS
27.8 CAPILLARY THERMAL CYCLER
27.9 ELECTRONIC HYBRIDIZATION
27.10 HYBRIDIZATION ARRAYS
27.11 MICRO-WELL PLATE ARRAYS
27.12 MICROARRAY PRINTING
27.13 SUMMARY
Acknowledgments
Chapter 28: The Use of Microelectronic-Based Techniques in Molecular Diagnostic Assays
28.1 INTRODUCTION
28.2 MICROFABRICATION
28.3 CHIPS FOR SAMPLE PREPARATION
28.4 DNA AND RNA AMPLIFICATION IN MICROCHIP FORMAT
28.5 COMMERCIAL IMPLEMENTATION OF MOLECULAR ASSAYS WITH THE USE OF MICROELECTRONICS
28.6 CONCLUSIONS
Chapter 29: Miniaturization Technologies for Molecular Diagnostics
29.1 MINIATURIZING MOLECULAR DIAGNOSTICS FOR THE CLINICAL LABORATORY
29.2 DRIVERS FOR TECHNICAL INNOVATIONS IN MOLECULAR DIAGNOSTICS
29.3 STRATEGIES FOR THE MOLECULARIZING OF THE CLINICAL LABORATORY
29.4 EMERGENCE OF TECHNOLOGIES FOR MINIATURIZATION OF MOLECULAR DIAGNOSTICS
29.5 WORKING TOWARD TOTAL SYSTEM INTEGRATION
29.6 CONCLUSIONS
Chapter 30: Human Gene Patents and Genetic Testing
30.1 INTRODUCTION
30.2 BENEFITS FROM PATENTS
30.3 PATENTABILITY
30.4 GENERAL CONCERNS
30.5 CONCERNS RELATED TO THE PROVISION OF HEALTHCARE
30.6 SUGGESTED REFORMS
30.7 CONCLUSIONS
Acknowledgments
Chapter 31: Genetic Counselling and Ethics in Molecular Diagnostics
31.1 INTRODUCTION
31.2 PROBLEMS IN GENETIC COUNSELLING
31.3 OPTIONS AVAILABLE TO PEOPLE WITH A REPRODUCTIVE RISK
31.4 PREMARITAL SCREENING
31.5 CAN PREVENTION PROGRAMS BE CONSIDERED EUGENICS?
31.6 ETHICS AND RELIGION IN GENETIC COUNSELLING
31.7 CONSANGUINEOUS MARRIAGE
31.8 WHY COUSIN MARRIAGE IS FAVORED BY SOME COMMUNITIES
31.9 CONCLUSIONS
Chapter 32: Genetic Testing and Psychology
32.1 INTRODUCTION
32.2 GETTING TO THE TEST: AWARENESS, ACCESS, AND ADVERTISING
32.3 INDIVIDUAL FACTORS INFLUENCING UTILIZATION OF GENETIC TESTING
32.4 GETTING THE GENETIC TEST RESULT: PERSONAL IMPACT AND PROFESSIONAL COMMUNICATION
32.5 FAMILY COMMUNICATION
32.6 FUTURE CHALLENGES: MORE GENES, LESS CLARITY
Chapter 33: Safety in Biomedical and Other Laboratories
33.1 INTRODUCTION
33.2 INTERNATIONAL, NATIONAL, REGIONAL, AND LOCAL SAFETY REGULATIONS
33.3 GENERAL CONSIDERATIONS IN LABORATORY SAFETY
33.4 Training in Safety
33.5 Safety Infrastructure
33.6 CONCLUSIONS
Chapter 34: Quality Management in the Laboratory
34.1 INTRODUCTION
34.2 INTERNATIONAL STANDARDS AND THEIR ROLE IN ACCREDITATION
34.3 A PROCESS-BASED APPROACH TO QUALITY MANAGEMENT SYSTEMS
34.4 BUILDING A QUALITY MANAGEMENT SYSTEM
34.5 ESTABLISHMENT AND CONTROL
34.6 REVIEW AND IMPROVEMENT
Glossary
Index
No. of pages: 488
Language: English
Edition: 1
Published: June 6, 2005
Imprint: Academic Press
Hardback ISBN: 9780125466615
eBook ISBN: 9780080473505
GP
George P. Patrinos
Dr. George Patrinos is an Associate Professor at the University of Patras School of Health Sciences (Department of Pharmacy) in Patras, Greece with Adjunct positions in Rotterdam, the Netherlands and Al-Ain, United Arab Emirates. His research interests span the fields of molecular diagnostics, high-throughput mutation screening, the development of online mutation diagnostic tools, and the implementation of genomics into healthcare, particularly for health systems in developing countries. George Patrinos has published more than 170 scientific papers in peer reviewed journals on topics related to genetics, genomic medicine, pharmacogenomics, molecular diagnostics, and social and economic evaluation for genomic medicine. Dr. Patrinos is also the co-author of Economic Evaluation in Genomic Medicine (2015) and co-Editor of Molecular Diagnostics, Second Edition (2009), both published by Elsevier, and serves as Communicating Editor for the journal Human Mutation. Additionally, he is co-organizer of the international meeting series “Golden Helix Symposia” and “Golden Helix Pharmacogenomics Days”.
Affiliations and expertise
Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Zayed Center of Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates
WA
Wilhelm Ansorge
Prof. Dr. Wilhelm Ansorge is a Senior Research Scientist and coordinator of the Biochemical Instrumentation Programme at the European Molecular Biology Laboratory in Heidelberg, Germany. His research interests include the development of the first complete Human Genome microarray, with numerous applications in gene expression studies and high-throughput Molecular Diagnostics.
Affiliations and expertise
Visiting Professor, Ecole Polytechnique Federale Lausanne, Switzerland