Validation of a Screening Method for Dynamic Mutations in the FMR1 Gene.
Copyright policy )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 using control samples with a known number of CGG repeats. All patients are classified into four categories based on the DNA melting curve. The clinical performance of the assay was established by 40 previously analyzed samples, yielding results of 100% sensitivity and 90.48% specificity in detection expansions of CGG (>30) repeats in the FMR1 gene. This method is appropriate for the quick determination of allelic changes in the FMR1 gene, screening a population, and identifying mutations or premutation carriers in a population with intellectual disabilities of an unknown cause.
- Josip Juraj Strossmayer University of Osijek Croatia
- University of Zagreb Croatia
Male, Fragile X Messenger Ribonucleoprotein 1, Reproducibility of Results, Real-Time Polymerase Chain Reaction, Nucleic Acid Denaturation, Polymerase Chain Reaction, Blotting, Southern, Trinucleotide Repeats, Fragile X Syndrome, DNA denaturation ; fragile X syndrome ; Real-Time Polymerase Chain Reaction, Humans, DNA denaturation, Female, Genetic Testing, fragile X syndrome, Child
Male, Fragile X Messenger Ribonucleoprotein 1, Reproducibility of Results, Real-Time Polymerase Chain Reaction, Nucleic Acid Denaturation, Polymerase Chain Reaction, Blotting, Southern, Trinucleotide Repeats, Fragile X Syndrome, DNA denaturation ; fragile X syndrome ; Real-Time Polymerase Chain Reaction, Humans, DNA denaturation, Female, Genetic Testing, fragile X syndrome, Child
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