The 2e of Molecular Diagnostics, the only book dealing with diagnosis on a molecular level, discusses current molecular biological techniques used to identify the underlying molecular defects in inherited disease. The book delves further into the principle and brief description of the technique, followed by examples from the authors' own expertise. Contributors to the 2e are well-known experts in their field, and derive from a variety of disciplines, to ensure breadth and depth of coverage. Molecular Diagnostics, 2e , is a needed resource for graduate students, researchers, physicians and practicing scientists in molecular genetics and professionals from similar backgrounds working in diagnostic laboratories in academia or industry, as well as academic institutions and hospital libraries.
- Deals exclusively with the currently used molecular biology techniques to identify the underlying molecular defect of inherited diseases
- Includes pharmacogenetics and pharmacogenomics relating to new cancer therapies
- Provies a comprehensive guide through emerging concepts and demonstrates how the available mutation screening technology can be implemented in diagnostic laboratories and provide better healthcare
Auflage
Sprache
Verlagsort
Verlagsgruppe
Elsevier Science & Techn.
ISBN-13
978-0-08-092318-5 (9780080923185)
Schweitzer Klassifikation
1. Molecular Diagnostics: Past, Present, and Future; 2. Allele-Specific Mutation Detection; 3. Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation; 4. Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis; 5. Capillary Electrophoresis; 6. Temperature and Denaturing Gradient Gel Electrophoresis; 7. Real-Time Polymerase Chain Reaction; 8. Pyrosequencing; 9. Application of Padlock and Selector Probes in Molecular Medicine; 10. Molecular Cytogenetics in Molecular Diagnostics; 11. Analysis of Human Splicing Defects Using Hybrid Minigenes; 12. Detection of Genomic Duplications and Deletions; 13. Multiplex Ligation-Dependent Probe Amplification (MLPA) and Methylation-Specific (MS)-MLPA: Multiplex Detection of DNA/mRNA Copy Number and Methylation Changes; 14. Molecular Techniques for DNA Methylation Studies; 15. High-Resolution Melting Curve Analysis for Molecular Diagnostics; 16. DNA Microarrays and Genetic Testing; 17. Arrayed Primer Extension Microarrays for Molecular Diagnostics; 18. Application of Proteomics to Disease Diagnostics; 19. RNA-Based Variant Detection: The Protein Truncation Test; 20. Protein Diagnostics by Proximity Ligation: Combining Multiple Recognition and DNA Amplification for Improved Protein Analyses; 21. Mass Spectrometry and its Applications to Functional Proteomics; 22. Pharmacogenetics and Pharmacogenomics: Impact on Druge Discovery and Clinical Care; 23. Nutrigenomics: Integrating Genomic Approaches into Nutrition Research; 24. Novel Next-Generation DNA Sequencing Techniques for Ultra High-Throughput Applications in Bio-Medicine; 25. Locus-Specific and National/Ethnic Mutation Databases: Emerging Tools for Molecular Diagnostics; 26. Molecular Diagnostic Applications in Forensic Science; 27. Mass Disaster Victim Identification ASsisted by DNA Typing; 28. Detection of Highly Pathogenic Viral Agents: Implications for Therapeutics, Vaccines and Biodefense; 29. Identification of Genetically Modified Organisms; 30. Molecular Diagnostics and Comparative Genomics in Clinical Microbiology; 31. Genetic Monitoring of Laboratory Rodents; 32. Safety Analysis in Retroviral Gene Therapy: Identifying Virus Integration Sites in Gene-Modified Cells; 33. Preimplantation Genetic Diagnosis; 34. Automated DNA Hybridization and Detection; 35. The Use of Microelectronic-Based Techniques in Molecular Diagnostic Assays; 36. Human Gene Patents and Genetic Testing; 37. Genetic Counseling and Ethics in Molecular Diagnostics; 38. Genetic Testing and Psychology; 39. General Considerations Concerning Safety in Biomedical Research Laboratories; 40. Quality Management in the Laboratory
