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https://hdl.handle.net/1822/2942
Título: | Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR) |
Autor(es): | Shi, Jinxiu Shibayama, Akane Liu, Qiang Nguyen, Vu Q. Feng, Jinong Santos, Mónica Temudo, Teresa Maciel, P. Sommer, Steve S. |
Palavras-chave: | Rett syndrome MECP2 RD-PCR Heterozygous deletion |
Data: | 2005 |
Editora: | John Wiley and Sons |
Revista: | Human Mutation |
Citação: | SHI, 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. |
Resumo(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. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/2942 |
DOI: | 10.1002/humu.9338 |
ISSN: | 1059-7794 |
e-ISSN: | 1098-1004 |
Versão da editora: | https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.9338 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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RETT_DEL_2005.pdf | 272,44 kB | Adobe PDF | Ver/Abrir |