Molecular analysis of fragile X syndrome in Antalya Province.
Indian J Med Sci
;
2005 Apr; 59(4): 150-5
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Female
/
Humans
/
Male
/
Polymerase Chain Reaction
/
Prospective Studies
/
RNA-Binding Proteins
/
Trinucleotide Repeats
/
Fragile X Mental Retardation Protein
/
Fragile X Syndrome
Type of study:
Observational study
/
Risk factors
Language:
English
Journal:
Indian J Med Sci
Year:
2005
Type:
Article
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