Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/2942

TitleDetection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)
Author(s)Shi, Jinxiu
Shibayama, Akane
Liu, Qiang
Nguyen, Vu Q.
Feng, Jinong
Santos, Mónica
Temudo, Teresa
Maciel, P.
Sommer, Steve S.
KeywordsRett syndrome
MECP2
RD-PCR
Heterozygous deletion
Issue date2005
PublisherJohn Wiley and Sons
JournalHuman Mutation
CitationSHI, Jinxiu [et al.] - Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). "Human Mutation" [Em linha]. 25:5 (2005) 505. [Consult. 16 Set. 2005]. Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/110472357/PDFSTART. ISSN 1098-1004.
Abstract(s)Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accurate method to detect large heterozygous deletions and duplications. A blinded analysis was performed for 65 RTT cases from Portugal by RDPCR in the coding exons 2-4 of the MECP2 gene. Neither the patients with point mutations nor the non-classical RTT patients without point mutation had a deletion or duplication. One of remaining eight female patients with classical RTT without point mutation had a heterozygous deletion. This is the first report of a deletion spanning the entire MECP2 gene. The deletion was confirmed by southern blotting analysis and the deletion junction was localized 37kb upstream from exon 1 and 18kb downstream from exon 4. No duplications were detected. Our results suggest that RD-PCR is an accurate and convenient molecular diagnostic method.
TypeArticle
URIhttp://hdl.handle.net/1822/2942
DOI10.1002/humu.9338
ISSN1059-7794
e-ISSN1098-1004
Publisher versionhttps://onlinelibrary.wiley.com/doi/abs/10.1002/humu.9338
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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