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The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's
K M Madsen1, L Hasholt, S A Sørensen
1Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
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.