A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
Eur J Hum Genet
; 5(2): 94-8, 1997.
Article
en En
| MEDLINE
| ID: mdl-9195159
ABSTRACT
The analysis of allelic methylation differences in 15q11-q13 has been established as a valid test for the Angelman and Prader-Willi syndromes. Current tests use methylation-sensitive restriction enzymes and Southern blot analysis. Here we describe a single-tube PCR test. It is based on sodium bisulfite treatment of DNA, which converts unmethylated, but not methylated cytosine residues to uracil, and PCR primers specific for the maternal and the paternal allele. The method was validated in a blinded retrospective study on 87 DNA samples from normal controls and patients. Prospective studies by independent laboratories will be needed before this assay can replace Southern blot analysis in routine diagnostic procedures.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Prader-Willi
/
Autoantígenos
/
Reacción en Cadena de la Polimerasa
/
Ribonucleoproteínas Nucleares Pequeñas
/
Síndrome de Angelman
/
Metilación de ADN
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1997
Tipo del documento:
Article