AmplideX® mPCR FMR1

The AmplideX mPCR FMR1 Kit employs an innovative PCR-only approach for the detection of methylation status in the FMR1 gene. These reagents determine 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.

Figure 1. mPCR assay workflow

Analytical Characteristics of AmplideX mPCR FMR1 Kit Include:

• Eliminates the need for Southern blot analysis
• Accurately measures the methylation fraction for each FMR1 allele at higher resolution than Southern blot analysis
• Provides increased sensitivity for the detection of lower abundance mosaic alleles*
• Includes spike-in digestion and amplification controls to ensure high performance with every sample
• Designed to complement the AmplideX FMR1 PCR Reagents*
• Improves turnaround time by fivefold: 10 hours from DNA to data (as compared to 1 week for Southern blot)

 A more informative and convenient alternative to Southern blot

Figure 2. AmplideX® mPCR FMR1 Kit* provides intra-assay and allele-specific methylation quantification consistent with Southern blot analysis

AmplideX® mPCR FMR1 Kit* results correlate well with observed phenotype

Observed phenotype†: Low functioning female (65 IQ), anxiety, mood swings, and ADHD

Observed genotype: Full mutation allele identified using AmplideX PCR/CE FMR1 Kit and fully methylated status resolved using AmplideX mPCR FMR1 Kit. The results were concordant with Southern blot and consistent with the observed phenotype.

†Courtesy Rush University Medical Centre