Publication
Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation
| dc.contributor.author | Santos, M | |
| dc.contributor.author | Yan, J | |
| dc.contributor.author | Temudo, T | |
| dc.contributor.author | Oliveira, G | |
| dc.contributor.author | Vieira, J | |
| dc.contributor.author | Fen, J | |
| dc.contributor.author | Sommer, S | |
| dc.contributor.author | Maciel, P | |
| dc.date.accessioned | 2011-08-29T14:37:53Z | |
| dc.date.available | 2011-08-29T14:37:53Z | |
| dc.date.issued | 2008 | |
| dc.description.abstract | In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five 3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation. | por |
| dc.identifier.citation | Dis Markers. 2008;24(6):319-24 | por |
| dc.identifier.issn | 0278-0240 | |
| dc.identifier.uri | http://hdl.handle.net/10400.10/402 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | IOS Press | por |
| dc.subject | Genótipo | por |
| dc.subject | Reacção em cadeia da polimerase | por |
| dc.subject | Variação genética | por |
| dc.subject | Perturbações mentais | por |
| dc.subject | Síndrome de Rett | por |
| dc.subject | Autism | por |
| dc.subject | Rett syndrome | por |
| dc.subject | Mental retardation | por |
| dc.title | Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Amsterdam | por |
| oaire.citation.endPage | 324 | por |
| oaire.citation.startPage | 319 | por |
| oaire.citation.title | Disease Markers | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |