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The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
Madsen, K M; Hasholt, L; Sørensen, S A; van Loo, A; Vanholder, R.
Afiliação
  • Madsen KM; Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
Scand J Clin Lab Invest ; 56(2): 177-82, 1996 Apr.
Article em En | MEDLINE | ID: mdl-8743111
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.
Assuntos
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Base de dados: MEDLINE Assunto principal: Doença de Fabry / Polimorfismo Conformacional de Fita Simples Limite: Humans Idioma: En Ano de publicação: 1996 Tipo de documento: Article
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Base de dados: MEDLINE Assunto principal: Doença de Fabry / Polimorfismo Conformacional de Fita Simples Limite: Humans Idioma: En Ano de publicação: 1996 Tipo de documento: Article