Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males
Representative males examined with (a) screening PCR, (b) Southern blot hybridization, and (c) methyl-CpG-binding PCR. For the non-FXS samples, the CGG repeat numbers are 29 (lanes 1 and 6), 54 (lane 2), and 98 (lane 3). For the FXS samples, lane 4 is a mosaic pattern comprising expanded FMR1 alleles with and without methylation, and unmethylated alleles with CGG-repeats in the normal range (indicated by arrows), and lane 5 has a nonmosaic pattern. (M): molecular size markers.
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