Data/hora: 10/06/2024 16:16:59

Provedor de dados: | 74
País: | Brazil
Título: | Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain
Autores: | Diego,Yolanda de; Hmadcha,Abdelkrim; Moron,Francisco; Lucas,Miguel; Carrasco,Mercedes; Pintado,Elizabeth.
Data: | 2002-01-01
Ano: | 2002
Palavras-chave: | Mental retardation; Fragile X syndrome; CGG repeats; Genetic screening.
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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100002
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572002000100002
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.25 n.1 2002
Fonte: | info:eu-repo/semantics/openAccess