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Molecular Diagnostics,

Edition 1

Edited by George P. Patrinos and Wilhelm Ansorge

Publication Date: 06 Jul 2005

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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.

Key Features

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

About the author

Edited by George P. Patrinos, 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 and Wilhelm Ansorge, Visiting Professor, Ecole Polytechnique Federale Lausanne, Switzerland

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
  - 12.6 MULTICOLOR FISH SCREENING ASSAYS
  - 12.7 MULTICOLOR WHOLE METAPHASE SCANNING TECHNIQUES
  - 12.8 MULTICOLOR CHROMOSOME BANDING TECHNIQUES
  - 12.9 WHOLE GENOME SCANNING AND COMPARATIVE GENOMIC HYBRIDIZATION
  - 12.10 DNA-ON-A-CHIP—MATRIX CGH
  - 12.11 CONCLUSIONS AND PERSPECTIVES
- Chapter 13: Detection of Genomic Duplications and Deletions
  - 13.1 INTRODUCTION
  - 13.2 MECHANISMS
  - 13.3 PATHOLOGICAL CONSEQUENCES
  - 13.4 DIAGNOSTIC TECHNIQUES
  - 13.7 NOMENCLATURE
  - 13.8 GENE DOSAGE APPLICATIONS IN TUMOR PROFILING
  - 13.9 SUMMARY AND FUTURE DEVELOPMENTS
- Chapter 14: Analysis of Human Splicing Defects Using Hybrid Minigenes
  - 14.1 INTRODUCTION
  - 14.2 BASIC PRE-mRNA SPLICING PROCESS AND ALTERNATIVE SPLICING
  - 14.3 NOVEL cis-ACTING ELEMENTS INVOLVED IN SPLICING REGULATION
  - 14.4 HUMAN GENETIC DEFECTS INVOLVING pre-mRNA SPLICING
  - 14.5 GENERAL STRATEGY OF THE HYBRID MINIGENE ASSAY FOR THE IDENTIFICATION OF SPLICING DEFECTS
  - 14.6 APPLICATIONS OF THE HYBRID MINIGENE ASSAY
  - 14.7 CONCLUSIONS
  - Acknowledgements
- Chapter 15: DNA Microarrays and Genetic Testing
  - 15.1 INTRODUCTION
  - 15.2 DNA MICROARRAYS AND GENE EXPRESSION PROFILING
  - 15.3 APPLICATION OF CGH ARRAYS FOR STUDIES OF THE MALIGNANT CELL GENOME
  - 15.4 APPLICATION OF SNP ARRAYS FOR STUDIES OF THE MALIGNANT CELL GENOME
  - 15.5 SEQUENCING MICROARRAYS: p53 STUDIES IN BLADDER CANCER
  - 15.6 RNAi ARRAYS—HIGH THROUGHPUT FUNCTIONAL TESTING
  - 15.7 FUTURE ASPECTS OF THE USE OF MICROARRAYS
- 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

ISBN: 9780125466615

Page Count: 488

Retail Price : £89.00

Brenner and Miller: Encyclopedia of Genetics, Four-Volume Set (Oct 2001, ISBN-10/13: 0-12-227080-0/ 978-0-12-227080-2)
Alcamo: DNA Technology, 2e (Apr 2000, ISBN-10/13: 0-12-048920-1/ 978-0-12-048920-6)
Sninsky: PCR Applications (Apr 1999, ISBN-10/13: 0-12-372185-7/ 978-0-12-372185-3)

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

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