Molecular Diagnostics - 1st Edition - ISBN: 9780125466615, 9780080473505

Molecular Diagnostics

1st Edition

Editors: George Patrinos Wilhelm Ansorge
Hardcover ISBN: 9780125466615
eBook ISBN: 9780080473505
Imprint: Academic Press
Published Date: 6th June 2005
Page Count: 488
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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.

Key Features

  • 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


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

Table of Contents

Foreward Preface Molecular Diagnostics: Past, Present and Future Allele-Specific Mutation Detection By PCR-ARMS And PCR-ASO Competitive Oligopriming Oligonucleotide Ligation Assays for the Diagnosis of Inherited Diseases Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis Capillary Electrophoresis Temperature and Denaturing Gradient Gel Electrophoresis Two-Dimensional Gene Scanning Real-Time Polymerase Chain Reaction Pyrosequencing Molecular Cytogenetics In Molecular Diagnostics Detection of Genomic Duplications and Deletions Analysis of Human Splicing Defects Using Hybrid Minigenes DNA Microarrays and Genetic Testing Human Genome Microarray In Biomedical Applications Use of High Throughput Mass Spectrographic Methods To Identify Disease Processes The Application of Proteomics To Disease Diagnostics Identification of Genetically Modified Organisms Pharmacogenetics and Pharmacogenomics: Impact on Drug Discovery and Development Molecular Diagnostic Applications in Forensic Science Molecular Diagnostics and Comparative Genomics in Clinical Microbiology Preimplantation Genetic Diagnosis Genetic Monitoring of Laboratory Animals The Use of Locus-Specific Databases in Molecular Diagnostics Safety Analysis in Retroviral Gene Therapy: Identifying virus integration sites in gene-modified cells Automated DNA Hybridisation and Detection The Use of Microelectronic-Based Techniques in Molecular Diagnostic Assays Miniaturization technologies for molecular diagnostics Human Gene Pat


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About the Editor

George Patrinos

Dr. George Patrinos is a Senior Research Scientist in Erasmus University Medical Center in Rotterdam, the Netherlands. He has many years of research experience in the field of Molecular Diagnostics. One of his current research interests is high throughput mutation screening and development of National mutation databases as online diagnostic tools.

Affiliations and Expertise

University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece

Wilhelm Ansorge

Prof. Dr. Wilhelm Ansorge is a Senior Research Scientist and coordinator of the Biochemical Instrumentation Programme at the European Molecular Biology Laboratory in Heidelberg, Germany. His research interests include the development of the first complete Human Genome microarray, with numerous applications in gene expression studies and high-throughput Molecular Diagnostics.

Affiliations and Expertise

Visiting Professor, Ecole Polytechnique Federale Lausanne, Switzerland


"...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)