The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
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.
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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