Molecular Diagnostics (eBook)

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