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| Gene Mutation Diagnostics - Asuragen |
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| Asuragen has developed a set of RUO reagents that can be used for human FMR1 molecular analyses involved in the syndrome FragileX. Two PCR formats are supported: 1) a gene-specific FMR1 PCR, and; 2) a CGG repeat primed FMR1 PCR. The repeat primed PCR assay utilises a novel CGG repeat primer along with gene-specific primers to enable amplification of the entire span of the triplet repeat region, but also each priming event that is possible from all CGG elements present within the repeat segment. Nearly all cases of FragileX are caused by CGG repeat expansion in FMR1, thus, quantifying the number of CGG repeats is an important goal. This method can also definitively identify female heterozygous samples, and provide enhanced resolution of allele-specific methylation patterns. |
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