Molecular Diagnosis of Genetic Diseases

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.