Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain
Genet. mol. biol
; Genet. mol. biol;25(1): 01-06, 2002. tab, graf
Article
em En
| LILACS
| ID: lil-324978
Biblioteca responsável:
BR26.1
ABSTRACT
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 percent. 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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Repetições de Trinucleotídeos
/
Síndrome do Cromossomo X Frágil
/
Deficiência Intelectual
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Genet. mol. biol
/
Genet. mol. biol. (Online)
/
Genetics and molecular biology (Impresso)
Assunto da revista:
GENETICA
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Espanha
País de publicação:
Brasil