Molecular Diagnostics

Edited by

  • George Patrinos, University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece
  • Wilhelm Ansorge, Visiting Professor, Ecole Polytechnique Federal Lausanne, Switzerland

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.
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Postgraduate students, researchers, physicians and practicing scientists in molecular genetics; professionals from similar backgrounds working in diagnostic laboratories in academia or industry; academic institutions and hospital libraries


Book information

  • Published: June 2005
  • ISBN: 978-0-12-546661-5


"...the book is uniform in style. The text is free of jargon and is well written in an easy to understand style. ...This book is a great resource for experienced readers, giving them a wide overview of the most up-to-date methods. It is also a great book for students and medical professionals who want to learn about the molecular tools used in diagnostics. ...a great teaching aid for courses involving molecular biology, genetics and diagnostic techniques." - AUSTRALIAN BIOCHEMIST (April 2006) "...the book will be useful to investigators in the diagnostic laboratory and to scientists generally who want a summary of current methods. ...Inclusion of ethical and safety considerations (as well as a section on patents) is a distinct plus, not often seen. ...this is a well organized and edited contribution." - DOODY'S (October 2005)

Table of Contents

ForewardPrefaceMolecular Diagnostics: Past, Present and FutureAllele-Specific Mutation Detection By PCR-ARMS And PCR-ASOCompetitive OligoprimingOligonucleotide Ligation Assays for the Diagnosis of Inherited DiseasesEnzymatic and Chemical Cleavage Methods to Identify Genetic VariationMutation Detection by Single Strand Conformation Polymorphism and Heteroduplex AnalysisCapillary ElectrophoresisTemperature and Denaturing Gradient Gel ElectrophoresisTwo-Dimensional Gene ScanningReal-Time Polymerase Chain ReactionPyrosequencingMolecular Cytogenetics In Molecular DiagnosticsDetection of Genomic Duplications and DeletionsAnalysis of Human Splicing Defects Using Hybrid MinigenesDNA Microarrays and Genetic TestingHuman Genome Microarray In Biomedical ApplicationsUse of High Throughput Mass Spectrographic Methods To Identify Disease ProcessesThe Application of Proteomics To Disease DiagnosticsIdentification of Genetically Modified OrganismsPharmacogenetics and Pharmacogenomics: Impact on Drug Discovery and DevelopmentMolecular Diagnostic Applications in Forensic ScienceMolecular Diagnostics and Comparative Genomics in Clinical MicrobiologyPreimplantation Genetic DiagnosisGenetic Monitoring of Laboratory AnimalsThe Use of Locus-Specific Databases in Molecular DiagnosticsSafety Analysis in Retroviral Gene Therapy: Identifying virus integration sites in gene-modified cellsAutomated DNA Hybridisation and DetectionThe Use of Microelectronic-Based Techniques in Molecular Diagnostic AssaysMiniaturization technologies for molecular diagnosticsHuman Gene Patents and Genetic TestingGenetic Counseling and Ethics in Molecular DiagnosticsGenetic Testing and PsychologySafety in Biomedical and Other LaboratoriesQuality Management in the LaboratoryGlossaryIndex