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Indian Journal of Medical Sciences
Medknow Publications on behalf of Indian Journal of Medical Sciences Trust
ISSN: 0019-5359
EISSN: 0019-5359
Vol. 59, No. 4, 2005, pp. 150-155
Bioline Code: ms05022
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Medical Sciences, Vol. 59, No. 4, 2005, pp. 150-155

 en Molecular analysis of fragile X syndrome in Antalya Province
Bilgen T., Keser I., Mihci E., Haspolat S., Tacoy S., Luleci G.

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 200and 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.

Keywords
Antalya, CGG repeats, expand long PCR, fragile X syndrome, FMR1 gene

 
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Alternative site location: http://www.indianjmedsci.org/

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