Molecular Diagnostics, 1st Edition

Molecular Diagnostics, 1st Edition,George Patrinos,Wilhelm Ansorge,ISBN9780125466615

Patrinos   &   Ansorge   

Academic Press




279 X 216

Exclusively dedicated to diagnosis of inherited diseases at the molecular level

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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


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.


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

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

View additional works by George Patrinos

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

View additional works by Wilhelm Ansorge

Molecular Diagnostics, 1st Edition

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
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 Patents and Genetic Testing
Genetic Counseling and Ethics in Molecular Diagnostics
Genetic Testing and Psychology
Safety in Biomedical and Other Laboratories
Quality Management in the Laboratory

Quotes and reviews

"...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."

"...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)
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