Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood.
BACKGROUND: Prader-Willi syndrome (PWS) is caused by alterations of the paternally derived chromosome 15 or by maternal uniparental disomy. The gene for the small nuclear ribonucleoprotein polypeptide N (SNRPN) is expressed only from the paternally derived chromosome 15, due to epigenetic imprinting. The SNRPN gene is not expressed in any patients with PWS regardless of the underlying cytogenetic or molecular causes. METHODS: To develop a rapid molecular diagnostic assay for PWS, we tested the expression of the SNRPN gene and a control gene in 9 patients with PWS and 40 control individuals by PCR analysis of reverse transcribed mRNA from blood leucocytes. We then tested 11 blood samples from patients with suspected PWS. FINDINGS: SNRPN expression could readily be detected in blood leucocytes by PCR analysis in all control samples but not in samples from known PWS patients. Four suspected plus were negative for SNRPN expression were found to have chromosome 15 rearrangements, while the diagnosis of PWS was excluded in the remaining seven with normal SNRPN expression based on clinical, molecular, and cytogenetic findings. INTERPRETATION: The SNRPN-expression test is rapid and reliable in the molecular diagnosis of Prader-Willi syndrome.[1]References
- Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Wevrick, R., Francke, U. Lancet (1996) [Pubmed]
Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Useapsburg
