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 ANDDESIGN:
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 ANDMETHODS:
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.
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
Similares
MEDLINE
...
LILACS
LIS