title: The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
abstract: Single-strand conformation polymorphism (SSCP) analysis is a widely used and relatively simple method for detection of sequence polymorphisms in DNA fragments. We have used this technique to screen the alpha-galactosidase gene, with the aim of identifying the disease causing mutations in families with Fabry's disease. Five single-base shift mutations were found, but a single base-pair deletion could not be recognized by SSCP. The risk of mistaking a neutral polymorphism for a mutation is illustrated, and the utility as well as the limitations of SSCP in screening and diagnostic use are discussed.
authors: Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
authors: K M
authors: KM
authors: Madsen
authors: L
authors: L
authors: Hasholt
authors: S A
authors: SA
authors: Sørensen
authors: A
authors: A
authors: van Loo
authors: R
authors: R
authors: Vanholder
mesh_terms: D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase