Article
Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene.
PloS one - 1 Jan 2017
Lim Grace X Y, Yeo Minli, Koh Yvonne Y, Winarni Tri Indah, Rajan-Babu Indhu-Shree, Chong Samuel S, Faradz Sultana M H, Guan Ming
Abstract excerpt
In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraXTM FMR1 Sizing kit, as a test in quantifying the number of CGG repeats in the FMR1 gene. Based on testing with well characterized DNA samples from Coriell, the kit yielded size results within 3 repeats of those obtained by common consensus (n = 14), with the exception of one allele. Furthermore, based on data obtained...
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