Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.10/402
Título: 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
Autor: Santos, M
Yan, J
Temudo, T
Oliveira, G
Vieira, J
Fen, J
Sommer, S
Maciel, P
Palavras-chave: Genótipo
Reacção em cadeia da polimerase
Variação genética
Perturbações mentais
Síndrome de Rett
Autism
Rett syndrome
Mental retardation
Data: 2008
Editora: IOS Press
Citação: Dis Markers. 2008;24(6):319-24
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.10/402
ISSN: 0278-0240
Aparece nas colecções:PED - Artigos

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