AmplideX FMR1 mPCR Kit (Metilazione)
FRAGILE X METHYLATION TESTING
The AmplideX® FMR1 mPCR reagents employ an innovative PCR-only approach for the detection of methylation status in the FMR1 gene. These reagents reveal the extent of methylation of each individual allele in both male and female samples, and thus eliminate the need to run tedious and time consuming Southern blots.
Kit Features
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Eliminates the need for Southern blot analysis
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Amplifies and detects normal, intermediate, premutation and full mutation alleles
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Accurately measures the methylation fraction for each FMR1 allele at higher resolution than Southern blot analysis
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Provides increased sensitivity for the detection of lower abundance mosaic alleles*
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Includes spike-in digestion and amplification controls to ensure high performance with every sample
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Designed to complement the AmplideX® FMR1 PCR Reagents
Workflow Overview
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A more informative and convenient alternative to Southern Blot
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Spike-in controls normalize results and report the success of the digestion reaction for each sample
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Alleles are detected in both the FAM and HEX channels. A comparison of peak heights in the two channels is used to determine the methylation fraction for each allele
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The methylation status observed using mPCR is concordant with Southern blot analysis
AmplideX®FMR1 mPCR results correlate well with observed phenotype
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Observed phenotype:† Low functioning female (65 IQ), anxiety, mood swings, and ADHD
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Observed genotype: Full mutation allele identified using AmplideX® FMR1 PCR Kit and fully methylated status resolved using Amplidex® FMR1 mPCR Kit. The results were concordant with Southern blot and consistent with the observed phenotype.
Ordering Information
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*For Research Use Only. Not for use in diagnostic procedures.
†Courtesy Rush University Medical Centre
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