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Main description:
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.
Contents:
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
Valerie 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
PRODUCT DETAILS
Publisher: Springer (Humana Press Inc.)
Publication date: November, 2010
Pages: 400
Weight: 586g
Availability: Available
Subcategories: Genetics
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