Molecular Diagnosis of Genetic Diseases

2. Auflage 2004
ISBN: 978-0-89603-932-2
Verlag: Humana Press

Buch, Englisch, Band 92, 387 Seiten, Format (B × H): 160 mm x 240 mm, Gewicht: 1620 g

Reihe: Methods in Molecular Medicine

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.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Elles, Rob

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie

Inhaltsverzeichnis

Optimizing PCR for Clinical Diagnosis.- Current and Emerging Techniques for Diagnostic Mutation Detection.- Mutation Scanning for the Clinical Laboratory.- Mutation Scanning for the Clinical Laboratory-Protein Truncation Test.- Mutation Scanning for the Clinical Laboratory.- Comparative Sequence Analysis.- Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization.- Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR.- Fragile X Disease.- Huntington’s Disease.- Hematological Applications.- Cystic Fibrosis.- Familial Adenomatous Polyposis.- Multiple Endocrine Neoplasia Types 1 and 2.- Neurofibromatosis Type 1.- Duchenne and Becker Muscular Dystrophy.- Spinal Muscular Atrophy.- Quality Management in Molecular Genetics.- Regulation of Genetic Testing in Clinical Practice.