Molecular diagnosis of genetic diseases
著者
書誌事項
Molecular diagnosis of genetic diseases
（Methods in molecular medicine / John M. Walker, series editor）
Humana Press, c1996
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
Expert clinical investigators present their best and most reliable methods for the molecular diagnosis of common genetic disorders. The methods - organized by disease or diagnostic area - are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offer possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Prader-Willi and Angelman syndromes, Huntington's disease, myotonic dystrophy, fragile X disease, cystic fibrosis, familial hypochloresterolemia, and the hemoglobinopathies.
目次
An Overview of Clinical Molecular Genetics. PCR Techniques for Deletion, Linkage, and Mutation Analysis in Duchenne/Becker Muscular Dystrophy. Detection of Unstable Trinucleotide Repeats. Searching for Mutations: Familial Adenomatous Polyposis as a Case Study. Methods of Screening in Cystic Fibrosis. Characterization of Gene Rearrangements and Gene Conversion Events in the 21-Hydroxylase Gene. Molecular Analysis of X-Chromosome Inactivation. Risk Analysis. Hemoglobinopathies: Community Clues to Mutation Detection. Automated Genotyping in Diagnosis. Genetic Counseling and Molecular Testing. Molecular Approaches to the Detection of Deletions and Uniparental Disomy in Prader-Willi and Angelman Syndromes. Noninvasive Prenatal Diagnosis Using Fetal Cells in Maternal Blood. PCR from Single Cells for Preimplantation Diagnosis. FISH in Preimplantation Diagnosis. Microtiter Array Diagonal Gel Electrophoresis (MADGE) for Population Scale Genotype Analyses. Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in DMD. Fluorescent Sequencing Protocols in Diagnosis. High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis: Mutation Detection in Familial Hypercholesterolemia. Quality Assurance in Molecular Diagnosis: The UK Experience. Index.
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