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

Autori
Škrlec, Ivana ; Barišić, Karmela ; Wagner, Jasenka

Izvornik
Annals of clinical and laboratory science (0091-7370) 48 (2018), 6; 810-813

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
DNA denaturation ; fragile X syndrome ; Real-Time Polymerase Chain Reaction

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti

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