Document Detail

Molecular analysis of fragile X syndrome in Antalya Province.
MedLine Citation:
PMID:  15876779     Owner:  NLM     Status:  MEDLINE    
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.
T Bilgen; I Keser; E Mihci; S Haspolat; S Tacoy; G Luleci
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Indian journal of medical sciences     Volume:  59     ISSN:  0019-5359     ISO Abbreviation:  Indian J Med Sci     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-05-06     Completed Date:  2005-06-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0373023     Medline TA:  Indian J Med Sci     Country:  India    
Other Details:
Languages:  eng     Pagination:  150-5     Citation Subset:  IM    
Department of Medical Genetics, School of Medicine, Akdeniz University, Antalya, Turkey.
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MeSH Terms
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Molecular Biology
Nerve Tissue Proteins / genetics*
Polymerase Chain Reaction
Prospective Studies
RNA-Binding Proteins / genetics*
Trinucleotide Repeats
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

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