Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.
Am J Med Genet
; 52(1): 79-84, 1994 Aug 01.
Article
em En
| MEDLINE
| ID: mdl-7977468
ABSTRACT
We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of-origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA)n dinucleotide repeat polymorphisms of the PWS/AS region and more distal markers of chromosome 15. In 10 patients the clinical diagnosis was confirmed by this approach, 6 with paternal deletion and 4 with maternal disomy. In one patient, the aberrant methylation pattern that was detected by PW71 could not be confirmed by the segregation of (CA)n, probably due to paternal microdeletion in the PWS critical region which did not include the loci D15S97, D15S113, GABRB3, and GABRA5. This case demonstrates the advantage of the DNA probe PW71 in the diagnosis of PWS.
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Síndrome de Prader-Willi
/
Sequências Repetitivas de Ácido Nucleico
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article