05201nam 2200625Ia 450 991079128580332120170925000752.01-282-73741-497866127374110-08-092318-6(CKB)2560000000004199(EBL)572063(OCoLC)528609449(SSID)ssj0000423389(PQKBManifestationID)11271177(PQKBTitleCode)TC0000423389(PQKBWorkID)10440245(PQKB)10760817(MiAaPQ)EBC572063(PPN)158375815(EXLCZ)99256000000000419920090704d2010 uy 0engur|n|---|||||txtccrMolecular diagnostics[electronic resource] /edited by George Patrinos, Wilhelm Ansorge2nd ed.London Academic20101 online resource (617 p.)Description based upon print version of record.0-12-374537-3 Includes bibliographical references and index.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-ARMS2.3 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 ANALYSIS4.3 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 APPLICATIONS5.6 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; REFERENCESChapter 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 PROBES9.3 APPLICATION OF PADLOCK AND MOLECULAR INVERSION PROBES FOR GENOTYPINGKEY 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 (GMOs) Covers forensic analysis and everyday issues in a diagnostic laboratoryDESCRIPTION:The2e 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 diseMolecular diagnosisGenetic screeningMolecular diagnosis.Genetic screening.616.0756Patrinos George P1488148Ansorge Wilhelm1944-1488149MiAaPQMiAaPQMiAaPQBOOK9910791285803321Molecular diagnostics3708375UNINA