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 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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