Umfang:
Online Ressource (xvii, 598 p.)
,
ill.
Ausgabe:
2nd ed
Ausgabe:
Online-Ausg.
ISBN:
9780123745378
,
0123745373
,
9780080923185
,
0080923186
Inhalt:
Key Features . Contains state-of-the-art techniques for the detection of the underlying genetic heterogeneity leading to inherited disorders . Includes in-depth discussion of ethical and safety considerations . Identifies genetically modified organisms (GMO's) . Covers forensic analysis and every-day issues in a diagnostic laboratory Description The second edition 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 2/e are well-known experts in their field, and derive from a variety of disciplines, to ensure breadth and depth of coverage. Molecular Diagnostics, 2/e, is a needed resource for graduate students, researchers, physicians and practicing scientists in molecular genetics; professionals from similar backgrounds working in diagnostic laboratories in academia or industry, as well as, academic institutions and hospital libraries. RELATED TITLES: Trent/Molecular Medicine, April 2005,$79.95, 0-12-699057-3 Innis (1999) PCR Applications, HB, $89.95,0-12-372185-7, PB, $66.95, Key Features: *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
Anmerkung:
Includes bibliographical references and index. - Description based on print version record
,
Front Cover; Molecular Diagnostics; Copyright Page; Contents; List of Contributors; Preface - First Edition; Preface - Second Edition; Foreword - First Edition; 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; REFERENCES; Section I. Molecular Diagnostic Technology; Chapter 2. Allele-Specific Mutation Detection; 2.1 INTRODUCTION; 2.2 PCR-ARMS
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2.3 PCR-ASO2.4 THE COMPETITIVE OLIGOPRIMING ASSAY; 2.5 CONCLUSIONS; REFERENCES; Chapter 3. Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation; 3.1 INTRODUCTION; 3.2 CHEMICAL PROPERTIES OF MISMATCHES; 3.3 CHEMICAL CLEAVAGE OF MISMATCH METHOD FOR MUTATION DETECTION; 3.4 ADVANTAGES AND LIMITATIONS; 3.5 ENZYMATIC CLEAVAGE OF MISMATCH METHODS; 3.6 CONCLUSIONS; REFERENCES; Chapter 4. Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis; 4.1 INTRODUCTION; 4.2 PRINCIPLES OF SINGLE STRAND CONFORMATION POLYMORPHISM ANALYSIS
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4.3 FLUORESCENT SINGLE STRAND CONFORMATION POLYMORPHISM ANALYSIS4.4 PARAMETERS INFLUENCING SINGLE STRAND CONFORMATION POLYMORPHISM ANALYSIS; 4.5 HETERODUPLEX ANALYSIS FOR MUTATION DETECTION; 4.6 SENSITIVITY AND LIMITATIONS; 4.7 DETECTION OF THE UNDERLYING GENOMIC VARIATION USING SSCP AND HDA; 4.8 CONCLUSIONS AND FUTURE ASPECTS; REFERENCES; Chapter 5. Capillary Electrophoresis; 5.1 INTRODUCTION; 5.2 HISTORY, PRINCIPLE, AND POTENTIAL APPLICATIONS OF CAPILLARY ELECTROPHORESIS; 5.3 CAPILLARY ELECTROPHORESIS IN MOLECULAR DIAGNOSTICS; 5.4 MODES OF APPLICATION; 5.5 SPECIFIC DIAGNOSTIC APPLICATIONS
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5.6 FUTURE IMPROVEMENTSREFERENCES; Chapter 6. Temperature and Denaturing Gradient Gel Electrophoresis; 6.1 INTRODUCTION; 6.2 THE THEORY OF TEMPERATURE-GRADIENT GEL ELECTROPHORESIS; 6.3 THE PRACTICE OF TEMPERATURE GRADIENT GEL ELECTROPHORESIS; 6.4 DENATURING GRADIENT GEL ELECTROPHORESIS (DGGE); 6.5 THE USE OF TGGE/DGGE FOR MUTATION DETECTION; 6.6 DETECTION RATE AND SENSITIVITY; 6.7 RELATED TECHNIQUES AND VARIANTS; 6.8 TECHNICAL EQUIPMENT FOR TGGE/DGGE; 6.9 APPLICATIONS OF TGGE/DGGE AND RELATED METHODS; 6.10 CONCLUSIONS; ACKNOWLEDGEMENTS; REFERENCES
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Chapter 7. Real-Time Polymerase Chain Reaction7.1 HISTORY OF PCR; 7.2 PRINCIPLE OF REAL-TIME PCR; 7.3 REAL-TIME THERMAL CYCLERS; 7.4 HOW DATA ARE OBTAINED; 7.5 HOW DATA ARE QUANTIFIED; 7.6 MULTIPLEX REAL-TIME PCR; 7.7 APPLICATIONS IN MOLECULAR DIAGNOSTICS; 7.8 CRITERIA FOR DEVELOPING REAL-TIME PCR ASSAYS; 7.9 CONCLUSIONS; REFERENCES; Chapter 8. Pyrosequencing; 8.1 INTRODUCTION; 8.2 TECHNOLOGY; 8.3 APPLICATIONS; 8.4 CONCLUSIONS; ACKNOWLEDGEMENTS; REFERENCES; Chapter 9. Application of Padlock and Selector Probes in Molecular Medicine; 9.1 INTRODUCTION; 9.2 PADLOCK AND SELECTOR PROBES
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9.3 APPLICATION OF PADLOCK AND MOLECULAR INVERSION PROBES FOR GENOTYPING
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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.
,
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
Weitere Ausg.:
ISBN 9780123745378
Weitere Ausg.:
ISBN 0123745373
Weitere Ausg.:
Print version Molecular Diagnostics
Sprache:
Englisch
Fachgebiete:
Medizin
Schlagwort(e):
Molekulare Diagnostik
;
Labormedizin
;
Electronic book
;
Electronic books
DOI:
10.1016/C2009-0-01736-X
URL:
Volltext
(An electronic book accessible through the World Wide Web; click for information)
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