Original ResearchAutomated detection of trinucleotide repeats in fragile X syndrome*
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Cited by (20)
You can build it... but will they come? The potential "expansion" of testing methodologies for fragile X syndrome
2009, Journal of Molecular DiagnosticsAn enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene
2005, Journal of Molecular DiagnosticsCitation Excerpt :The presence of 7-deaza-2′-GTP greatly reduces the detection of stained PCR products with ethidium bromide;15 PCR-based methods using this analog thus require an additional detection method such as silver staining,11 inclusion of an α-32P-labeled dNTP in the reaction, or hybridization with a radioactive or chemiluminescent probe. The use of betaine instead of DMSO to reduce secondary structures or the Expand Long Template PCR system (Roche Diagnostics) has been independently proposed in the analysis of repeat ex-pansions,12, 13, 14 often in conjunction with fluorescence PCR-based assays. Here, we describe a simple and robust procedure that can be used to screen for FMR1 expansions, which can be detected directly on agarose or acrylamide gels using ethidium bromide staining.
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil
2019, Anais da Academia Brasileira de Ciencias
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Supported by a grant from Pharmacia Biotech.