Validation of a Screening Method for Dynamic Mutations in the FMR1 Gene.

The objectives of this study were to validate the direct triplet-primed PCR method (dTP-PCR) for determination of dynamic mutations in the FMR1 gene, and to compare the results of the dTP-PCR method and Southern blot analysis. The number of CGG repeats in the FMR1 gene was determined by the direct triplet-primed PCR method and by melting curve analysis. The cut-off temperature between normal and permutations of the CGG repeats was determined...