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Intragenic probe used for diagnostics in fragile X families.
Verkerk, A J; deVries, B B; Niermeijer, M F; Fu, Y H; Nelson, D L; Warren, S T; Majoor-Krakauer, D F; Halley, D J; Oostra, B A.
Afiliación
  • Verkerk AJ; Department of Clinical Genetics, University Hospital Dijkzigt, The Netherlands.
Am J Med Genet ; 43(1-2): 192-6, 1992.
Article en En | MEDLINE | ID: mdl-1605192
The intragenic (FMR-1) probe pE5.1 was used for DNA analysis in fragile X families. With this probe fragments of altered size can be detected in female carriers, affected individuals and transmitting males. The length of the altered fragments was found to vary from one generation to another as well as between sibs. This instability of the DNA detected by pE5.1 was also seen in peripheral blood within single individuals. These phenomena are illustrated by 4 exemplary families segregating the fragile X syndrome. We demonstrate the diagnostic contribution of intragenic analysis to carrier detection as well as the identification of normal transmitting males carrying premutations. One of the families illustrates the passage of a premutation to a male through 2 generations.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sondas de ADN / Síndrome del Cromosoma X Frágil Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet Año: 1992 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Buscar en Google
Añadir a Mi BVS
Imprimir
XML
PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sondas de ADN / Síndrome del Cromosoma X Frágil Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet Año: 1992 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos