The utility of single-strand conformation polymorphism (SSCP) analysis: Results obtained in families with Fabry's disease
- 1 January 1996
- journal article
- Published by Taylor & Francis in Scandinavian Journal of Clinical and Laboratory Investigation
- Vol. 56 (2) , 177-182
- https://doi.org/10.3109/00365519609088605
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 a-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.Keywords
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