Peng, Hoh Boon
(2009)
Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR.
Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR.
(Submitted)
Abstract
Fragile X Syndrome (FXS) is the most prevalent inherited cause of mental retardation.
The prevalence of FXS in males and females are approximately 1 in 4000 and I in 8000
respectively. It is caused by CGG repeat instability in the FMRl gene, located on
chromosome Xq27.3. Normal individuals have CGG repeats ranging from 5 to 53. In
premulation carriers, the CGG repeats range from 60 to 200 and shall be more than 200
repeats tor ti.Jil mutation patients. FXS patients have variable clinical features and
because of that, an accurate clinical 'diagnosis is always a problem. Currently,
Cytogenetic, PCR and Southern Blot Techniques are widely used for diagnosis of FXS.
Here we report a pair of brothers suspected to be FXS patients with similar clinical
features. However, the cytogenetic result for younger brother did not show fragile site at
Xq27.3 of the X chromosome while molecular result was confirmatory for FXS.
Conversely, the elder brother showed confirmatory results for Fragile X mutation in both
cytogenetic and molecular analysis. We therefore conclude that cytogenetic analysis
alone Cftnnot be dependable for the confirmatory diagnosis ofFXS.
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