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9780896039322

Molecular Diagnosis of Genetic Diseases

by ;
  • ISBN13:

    9780896039322

  • ISBN10:

    0896039323

  • Edition: 2nd
  • Format: Hardcover
  • Copyright: 2003-10-01
  • Publisher: Humana Pr Inc

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Summary

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.

Table of Contents

Preface v
Contributors ix
Optimizing PCR for Clinical Diagnosis
1(8)
Michael P. Bulman
Current and Emerging TEchniques for Diagnostic Mutation Detection: An Overview of Methods for Mutation Detection
9(36)
Claire F. Taylor
Graham R. Taylor
Mutation Scanning for the Clinical Laboratory: DHPLC
45(22)
John F. Harvey
Julian R. Sampson
Mutation Scanning for the Clinical Laboratory-Protein Truncation Test
67(14)
Yvonne Wallis
Mutation Scanning for the Clinical Laboratory: Automated Fluorescent Sequencing
81(34)
Andrew J. Wallace
Comparative Sequence Analysis
115(10)
Chris Mattocks
Patrick Tarpey
Jo Whittaker
Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization
125(16)
John A. L. Armour
Isa A. Rad
Ed J. Hollox
Seyed M. Akrami
Gareth S. Cross
Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR
141(16)
Kathy Mann
Fragile X Disease
157(26)
Valerie Biancalana
James Macpherson
Huntington's Disease
183(20)
Linda Meredith
Hematological Applications: Hemoglobinopathies
203(18)
John M. Old
Cystic Fibrosis
221(24)
Harry Cuppens
Elisabeth Dequeker
Jean-Jacques Cassiman
Familial Adenomatous Polyposis
245(22)
Fiona Macdonald
Multiple Endocrine Neoplasia Types 1 and 2
267(18)
Sian Ellard
Neurofibromatosis Type 1: A Common Familial Cancer Syndrome
285(26)
Meena Upadhyaya
Peter Thompson
Song Han
David N. Cooper
Duchenne and Becker Muscular Dystrophy
311(32)
Alexander L. J. Kneppers
Ieke B. Ginjaar
Egbert Bakker
Spinal Muscular Atrophy
343(16)
Hans Scheffer
Quality Management in Molecular Genetics
359(10)
Els Voorhoeve
Alexander L. J. Kneppers
Simon Patton
Regulation of Genetic Testing in Clinical Practice
369(8)
Ulf Kristoffersson
Index 377

Supplemental Materials

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