Molecular characterization of Prader-Willi syndrome by real-time PCR

Munce, Teresa, Simpson, Robert and Bowling, Francis (2008) Molecular characterization of Prader-Willi syndrome by real-time PCR. Genetic Testing, 12 2: 319-324. doi:10.1089/gte.2007.0105

Author Munce, Teresa
Simpson, Robert
Bowling, Francis
Title Molecular characterization of Prader-Willi syndrome by real-time PCR
Journal name Genetic Testing   Check publisher's open access policy
ISSN 1090-6576
Publication date 2008-06
Sub-type Article (original research)
DOI 10.1089/gte.2007.0105
Volume 12
Issue 2
Start page 319
End page 324
Total pages 6
Place of publication New Rochelle, NY, United States
Publisher Mary Ann Liebert
Language eng
Abstract Prader–Willi syndrome (PWS) is a contiguous gene syndrome caused by the loss of function of genes situated within the 15q11–q13 region. The loss of function arises as a result of paternally derived mutations complemented by maternal imprinting. The molecular events underlying the disorder include interstitial deletions (70%), uniparental disomy (UPD) (25%), imprinting center defects (<5%), and rarely chromosomal translocations (<1%). The standard diagnosis of PWS is based on clinical observations and genetic investigations involving DNA methylation studies and fluorescence in situ hybridization (FISH) analysis. The absence of a paternal methylation pattern within 15q11 is sufficient for a diagnosis of PWS, and FISH analyses are used for the additional categorization of patients as either deletion or nondeletion. The main limitation of these investigations is that they neither determine the size of the molecular deletions nor permit detection of individuals with microdeletions in the PWS imprinting center that regulates imprinting in this region. We have designed and implemented a realtime PCR assay using genomic DNA and SYBR green I intercalating dye to determine the size of the chromosomal deletions in patients with PWS. This has been successfully performed on genomic DNA isolated from both peripheral blood leukocytes and buccal epithelial cells. Through this assay, the two common deletion classes in PWS were observed, and all results were 100% concordant with previous FISH assays performed on the same patients.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Biomedical Sciences Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 5 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 4 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Thu, 03 Sep 2009, 09:55:49 EST by Mr Andrew Martlew on behalf of School of Biomedical Sciences