| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain
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| Autores: |
Diego,Yolanda de
Hmadcha,Abdelkrim
Moron,Francisco
Lucas,Miguel
Carrasco,Mercedes
Pintado,Elizabeth
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| Data: |
2002-01-01
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| Ano: |
2002
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| Palavras-chave: |
Mental retardation
Fragile X syndrome
CGG repeats
Genetic screening
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| Resumo: |
Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we called "allele 10" (17 CA). Similar to other south European populations, allele 2 (25 CA) at the DXS548 locus and the fragile X allele were in linkage disequilibrium supporting the idea of a common founder chromosome predisposing to the CGG expansion.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100002
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572002000100002
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.25 n.1 2002
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| Direitos: |
info:eu-repo/semantics/openAccess
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