LEADER 05201nam 2200625Ia 450 001 9910791285803321 005 20170925000752.0 010 $a1-282-73741-4 010 $a9786612737411 010 $a0-08-092318-6 035 $a(CKB)2560000000004199 035 $a(EBL)572063 035 $a(OCoLC)528609449 035 $a(SSID)ssj0000423389 035 $a(PQKBManifestationID)11271177 035 $a(PQKBTitleCode)TC0000423389 035 $a(PQKBWorkID)10440245 035 $a(PQKB)10760817 035 $a(MiAaPQ)EBC572063 035 $a(PPN)158375815 035 $a(EXLCZ)992560000000004199 100 $a20090704d2010 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aMolecular diagnostics$b[electronic resource] /$fedited by George Patrinos, Wilhelm Ansorge 205 $a2nd ed. 210 $aLondon $cAcademic$d2010 215 $a1 online resource (617 p.) 300 $aDescription based upon print version of record. 311 $a0-12-374537-3 320 $aIncludes bibliographical references and index. 327 $aFront 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 327 $a2.3 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 327 $a4.3 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 327 $a5.6 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 327 $aChapter 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 327 $a9.3 APPLICATION OF PADLOCK AND MOLECULAR INVERSION PROBES FOR GENOTYPING 330 $aKEY 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 dise 606 $aMolecular diagnosis 606 $aGenetic screening 615 0$aMolecular diagnosis. 615 0$aGenetic screening. 676 $a616.0756 701 $aPatrinos$b George P$01488148 701 $aAnsorge$b Wilhelm$f1944-$01488149 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910791285803321 996 $aMolecular diagnostics$93708375 997 $aUNINA