Molecular Diagnostics

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 disordersIncludes state-of-the-art techniques for the detection of the underlying genetic heterogeneity leading to inherited disordersIdentification of genetically modified organisms (GMO's)Forensic analysis and every-day issues in a diagnostic laboratoryDiscusses ethics, genetic counselling and quality management

Chapter 1: Molecular Diagnostics: Past, Present, and Future

Section I: Molecular Diagnostic Technology

Chapter 2: Allele-Specific Mutation Detection by PCR-ARMS and PCR-ASO

Chapter 3: Competitive Oligopriming

Chapter 4: Oligonucleotide Ligation Assays for the Diagnosis of Inherited Diseases

Chapter 5: Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation

Chapter 6: Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis

Chapter 7: Capillary Electrophoresis

Chapter 8: Temperature and Denaturing Gradient Gel Electrophoresis

Chapter 9: Two-Dimensional Gene Scanning

Chapter 10: Real-Time Polymerase Chain Reaction

Chapter 11: Pyrosequencing

Chapter 12: Molecular Cytogenetics in Molecular Diagnostics

Chapter 13: Detection of Genomic Duplications and Deletions

Chapter 14: Analysis of Human Splicing Defects Using Hybrid Minigenes

Chapter 15: DNA Microarrays and Genetic Testing

Chapter 16: Human Genome Microarray in Biomedical Applications

Chapter 17: Use of High Throughput Mass Spectrographic Methods to Identify Disease Processes

Chapter 18: The Application of Proteomics to Disease Diagnostics

Section II: Applications of Molecular Diagnostics and Related Issues

Chapter 19: Identification of Genetically Modified Organisms

Chapter 20: Pharmacogenetics and Pharmacogenomics: Impact on Drug Discovery and Development

Chapter 21: Molecular Diagnostic Applications in Forensic Science

Chapter 22: Molecular Diagnostics and Comparative Genomics in Clinical Microbiology

Chapter 23: Preimplantation Genetic Diagnosis

Chapter 24: Genetic Monitoring of Laboratory Animals

Chapter 25: The Use of Locus-Specific Databases in Molecular Diagnostics

Chapter 26: Safety Analysis in Retroviral Gene Therapy: Identifying Virus Integration Sites in Gene-Modified Cells

Chapter 27: Automated DNA Hybridization and Detection

Chapter 28: The Use of Microelectronic-Based Techniques in Molecular Diagnostic Assays

Chapter 29: Miniaturization Technologies for Molecular Diagnostics

Chapter 30: Human Gene Patents and Genetic Testing

Chapter 31: Genetic Counselling and Ethics in Molecular Diagnostics

Chapter 32: Genetic Testing and Psychology

Chapter 33: Safety in Biomedical and Other Laboratories

Chapter 34: Quality Management in the Laboratory