Your browser doesn't support javascript.
loading
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
de Graaff, E; Rouillard, P; Willems, P J; Smits, A P; Rousseau, F; Oostra, B A.
Afiliación
  • de Graaff E; Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Hum Mol Genet ; 4(1): 45-9, 1995 Jan.
Article en En | MEDLINE | ID: mdl-7711733
The fragile X syndrome is the most frequent cause of inherited mental retardation. The molecular mechanism of the disorder is based on the expansion of a CGG repeat in the 5' UTR of the FMR1 gene in the majority of fragile X patients. The instability of this CGG repeat containing region is not restricted to the CGG repeat itself but expands to the flanking region as well. We describe four unrelated fragile X patients that are mosaic for both a full mutation and a small deletion in the CGG repeat containing region. Sequence analysis of the regions surrounding the deletions showed that both the (CGG)n repeat and some flanking sequences were missing in all four patients. The 5' breakpoints of the deletions were found to be located between 75-53 bp proximal to the CGG repeat. This suggests the presence of a hot spot region for deletions in the CGG repeat region of the FMR1 gene and emphasizes the instability of this region in the presence of an expanded CGG repeat.
Asunto(s)
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuencias Repetitivas de Ácidos Nucleicos / Proteínas de Unión al ARN / Eliminación de Secuencia / Síndrome del Cromosoma X Frágil / Proteínas del Tejido Nervioso Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 1995 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuencias Repetitivas de Ácidos Nucleicos / Proteínas de Unión al ARN / Eliminación de Secuencia / Síndrome del Cromosoma X Frágil / Proteínas del Tejido Nervioso Límite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 1995 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido