Molecular Diagnosis of Genetic Diseases

ISBN-13: 9780896039322 / Angielski / Twarda / 2003 / 387 str.

Rob Elles; Roger Mountford

Opis

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Recenzje

Reviews of the first edition:

"The chapters are clear and well written, and the book would be useful to those looking for a technique manual directed specifically toward clinical application of molecular genetic diagnostic testing. Three Stars" -Doody's Health Sciences Book Review Journal

"The book's scope, crisp text, attention to details, and spiral binding all make this a useful benchtop reference manual, to which this already stained copy will testify." -Laboratory Corporation of America

"With its contribution to the series Methods in Molecular Medicine, Rob Elles has filled a gap...provides a fairly complete view on the current state of the art in clinical molecular genetics. A wealth of information and experience is described by Elles." -Med Genet

"This book will be widely welcomed by scientists involved in the molecular diagnosis of inherited disorders. For the first time, protocols, support information and references for a dozen single gene disorders are gathered into a single source." -Trends in Genetics

Spis treści

Optimizing PCR for Clinical Diagnosis Michael P. Bulman Current and Emerging Techniques for Diagnostic Mutation Detection: An Overview of Methods for Mutation Detection Claire F. Taylor and Graham R. Taylor Mutation Scanning for the Clinical Laboratory: DHPLC John F. Harvey and Julian R. Sampson Mutation Scanning for the Clinical Laboratory-Protein Truncation Test Yvonne Wallis Mutation Scanning for the Clinical Laboratory: Automated Fluorescent Sequencing Andrew J. Wallace Comparative Sequence Analysis Chris Mattocks, Patrick Tarpey, and Jo Whittaker Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization John A. L. Armour, Isa A. Rad, Ed J. Hollox, Seyed M. Akrami, and Gareth S. Cross Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR Kathy Mann Fragile X Disease Valérie Biancalana and James Macpherson Huntington's Disease Linda Meredith Hematological Applications: Hemoglobinopathies John M. Old Cystic Fibrosis Harry Cuppens, Elisabeth Dequeker, and Jean-Jacques Cassiman Familial Adenomatous Polyposis Fiona Macdonald Multiple Endocrine Neoplasia Types 1 and 2 Sian Ellard Neurofibromatosis Type 1: A Common Familial Cancer Syndrome Meena Upadhyaya, Peter Thompson, Song Han, and David N. Cooper Duchenne and Becker Muscular Dystrophy Alexander L. J. Kneppers, Ieke B. Ginjaar, and Egbert Bakker Spinal Muscular Atrophy Hans Scheffer Quality Management in Molecular Genetics Els Voorhoeve, Alexander L. J. Kneppers, and Simon Patton Regulation of Genetic Testing in Clinical Practice Ulf Kristoffersson Index

Blurb

In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls.
Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.