Diagnostic value of molecular approach in screening for fragile X premutation cases

ConclusionMolecular diagnostic assay including (MS-PCR) and (qRT-PCR) proved to be a sensitive and rapid screening tool for the detection of premutation cases. Furthermore, the presence of positive correlation between FMR1 mRNA expression levels with CGG repeats in premutation cases could serve as a potential diagnostic marker. Application of these diagnostic tools on larger number clinically suspected cases is recommended.
Source: Irish Journal of Medical Science - Category: General Medicine Source Type: research