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| Diego,Yolanda de; Hmadcha,Abdelkrim; Moron,Francisco; Lucas,Miguel; Carrasco,Mercedes; Pintado,Elizabeth. |
| 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 |
Palavras-chave: Mental retardation; Fragile X syndrome; CGG repeats; Genetic screening. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100002 |
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