Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2337
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, JP
Fen, J
Sommer, S
Maciel, P
Palavras-chave: 3' Untranslated Regions/genetics
Intellectual Disability/genetics
Methyl-CpG-Binding Protein 2/genetics
Rett Syndrome/genetics
Genetic Variation
Genotype
Methyl-CpG-Binding
Methyl-CpG-Binding Protein 2/metabolism
Mutation
Phenotype
Polymerase Chain Reaction
Female
HDE NEU PED
Data: 2008
Editora: Hindawi
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. Five3'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/10400.17/2337
Aparece nas colecções:NEU PED - Artigos

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