Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Posters/abstracts em congressos internacionais >

Please use this identifier to cite or link to this item:

Título: Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes
Autor: Loureiro, Joana
Jorge, Paula
Marques, Isabel
Santos, Rosário
Seixas, Ana
Martins, Márcia
Vale, José
Sequeiros, Jorge
Silveira, Isabel
Palavras-chave: Fragile X syndrome
Dynamic mutations
Portuguese FXS families
FMR1 gene
CGG repeat length
Doenças Genéticas
Issue Date: 23-May-2012
Resumo: Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. FXS is caused by a (CGG)n expansion of over 200 repeats, in the 5’UTR of the FMR1 gene, which as a result is usually methylated and the gene silenced. Based on CGG repeat length, four classes of alleles can be distinguished: normal (5-44), intermediate (45-54), premutation (55-200; PM) and full mutation (>200; PM) alleles. Premutations expand to full mutation alleles only via maternal transmission and larger premutations have an increased risk of expansion to full mutation. Paternal premutations and full mutations are inherited in the premutation range. The aim of this study is to gain insights into instability of FMR1 CGG repeat alleles and associated phenotypes in 128 Portuguese FXS families.
Descrição: Publicado em: European Journal of Human Genetics Volume 20 Supplement 1 June 2012. Sec1:339
Arbitragem científica: yes
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

Files in This Item:

File Description SizeFormat
poster_ESHG 2012_JL.pdf485,47 kBAdobe PDFView/Open
Restrict Access. You can request a copy!

Please give feedback about this item
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.


  © 2010 - Todos os direitos reservados | Feedback Ministério da Saúde
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia