Molecular Diagnosis of Genetic Diseases

Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Elles, Rob. (Editor)
Format: eBook
Language:English
Published: Totowa, NJ : Humana Press : Imprint: Humana, 1996.
Edition:1st ed. 1996.
Series:Methods in Molecular Medicine, 5
Subjects:
Online Access:https://doi.org/10.1385/0896033465
Table of Contents:
  • 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
  • Methods for 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
  • 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 Duchenne Muscular Dystrophy
  • Fluorescent Sequencing Protocols in Diagnosis
  • High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis
  • Quality Assurance in Molecular Diagnosis.