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Molecular Diagnostics -

Molecular Diagnostics (eBook)

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2005 | 1. Auflage
488 Seiten
Elsevier Science (Verlag)
978-0-08-047350-5 (ISBN)
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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
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

List of Contributors 7
Foreword 13
Preface 15
CHAPTER 1: Molecular Diagnostics: Past,Present,and Future 17
SECTION 1: Molecular Diagnostic Technology 29
CHAPTER 2: Allele-Specific Mutation Detection by PCR-ARMS and PCR-ASO 31
CHAPTER 3: Competitive Oligopriming 39
CHAPTER 4: Oligonucleotide Ligation Assays for the Diagnosis of Inherited Diseases 47
CHAPTER 5: Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation 57
CHAPTER 6: Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis 71
CHAPTER 7: Capillary Electrophoresis 83
CHAPTER 8: Temperature and Denaturing Gradient Gel Electrophoresis 99
CHAPTER 9: Two-Dimensional Gene Scanning 113
CHAPTER 10: Real-Time Polymerase Chain Reaction 125
CHAPTER 11: Pyrosequencing 143
CHAPTER 12: Molecular Cytogenetics in Molecular Diagnostics 155
CHAPTER 13: Detection of Genomic Duplications and Deletions 175
CHAPTER 14: Analysis of Human Splicing Defects Using Hybrid Minigenes 187
CHAPTER 15: DNA Microarrays and Genetic Testing 201
CHAPTER 16: Human Genome Microarray in Biomedical Applications 217
CHAPTER 17: Use of High Throughput Mass Spectrographic Methods to Identify Disease Processes 227
CHAPTER 18: The Application of Proteomics to Disease Diagnostics 239
SECTION II: Applications of Molecular Diagnostics and Related Issues 249
CHAPTER 19: Identification of Genetically Modified Organisms 251
CHAPTER 20: Pharmacogenetics and Pharmacogenomics: Impact on Drug Discovery and Development 265
CHAPTER 21: Molecular Diagnostic Applications in Forensic Science 283
CHAPTER 22: Molecular Diagnostics and Comparative Genomics in Clinical Microbiology 297
CHAPTER 23: Preimplantation Genetic Diagnosis 313
CHAPTER 24: Genetic Monitoring of Laboratory Animals 327
CHAPTER 25: The Use of Locus-Specific Databases in Molecular Diagnostics 335
CHAPTER 26: Safety Analysis in Retroviral Gene Therapy: Identifying Virus Integration Sites in Gene-Modified Cells 343
CHAPTER 27: Automated DNA Hybridization and Detection 353
CHAPTER 28: The Use of Microelectronic-Based Techniques in Molecular Diagnostic Assays 365
CHAPTER 29: Miniaturization Technologies for Molecular Diagnostics 381
CHAPTER 30: Human Gene Patents and Genetic Testing 407
CHAPTER 31: Genetic Counselling and Ethics in Molecular Diagnostics 415
CHAPTER 32: Genetic Testing and Psychology 425
CHAPTER 33: Safety in Biomedical and Other Laboratories 437
CHAPTER 34: Quality Management in the Laboratory 445
Glossary 455
Index 463

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