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Molecular analysis of fragile X syndrome in Antalya Province.
Indian J Med Sci ; 2005 Apr; 59(4): 150-5
Artículo en Inglés | IMSEAR | ID: sea-67291
ABSTRACT

BACKGROUND:

Detection of the (CGG)n repeats in the FMR1 gene that cause the fragile X syndrome (FXS), has become a milestone for phenotype-genotype correlation in FXS.

AIMS:

To screen the FMR1 gene CGG repeats in index cases with FXS and their family members in the Antalya Province. SETTING AND

DESIGN:

This study was prospectively conducted between January 2000 and March 2005 in Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya. MATERIALS AND

METHODS:

A series of 132 cases from three hospitals in Antalya Province were studied. All cases were molecularly screened using non-radioactive Expand Long PCR method that was confirmed by Southern blotting.

RESULTS:

Seventeen out of 132 cases were found to have a full mutation, including three that were mosaic for premutations/full mutations. Of the 132 cases, eight were found to have the premutation size of the CGG repeats. The remaining 107 cases were identified as normal.

CONCLUSIONS:

Due to premature ovarian failure and Fragile X premutation Tremor/Ataxia Syndrome related with the premutation, the detection of the premutation will provide valuable information both for clinical follow-up and genetic counseling. In conclusion, our data suggest that expansion of CGG repeats in the FMR1 gene can be analyzed by Expand Long PCR, an efficient and non-radioactive method that can be used to monitor the expansion of premutation to full mutation, which would eventually lead to reduce the FXS prevalence.
Asunto(s)
Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Linaje / Femenino / Humanos / Masculino / Reacción en Cadena de la Polimerasa / Estudios Prospectivos / Proteínas de Unión al ARN / Repeticiones de Trinucleótidos / Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil / Síndrome del Cromosoma X Frágil Tipo de estudio: Estudio observacional / Factores de riesgo Idioma: Inglés Revista: Indian J Med Sci Año: 2005 Tipo del documento: Artículo

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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Linaje / Femenino / Humanos / Masculino / Reacción en Cadena de la Polimerasa / Estudios Prospectivos / Proteínas de Unión al ARN / Repeticiones de Trinucleótidos / Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil / Síndrome del Cromosoma X Frágil Tipo de estudio: Estudio observacional / Factores de riesgo Idioma: Inglés Revista: Indian J Med Sci Año: 2005 Tipo del documento: Artículo