Decoding Fragile X Syndrome

ABOUT THIS PRODUCT:

In this multi-part experiment, students will gain an understanding of the screening process for Fragile X syndrome. First, students will analyze simulated patient PCR samples to determine CGG repeat expansions in the FMR1 gene. Next, simulated Southern blot analysis will be used to confirm repeat size and methylation status.

• Students will explore how CGG repeat expansions in the FMR1 gene cause Fragile X Syndrome, including the differences between normal, gray zone, premutation, and full mutation alleles.
• Gain hands-on experience preparing and running an agarose gel to separate simulated patient PCR samples, then interpret fluorescent band patterns to estimate CGG repeat counts and infer a patient's genetic sex.
• Learn how polymerase chain reaction amplifies specific regions of DNA to screen for Fragile X carrier status, and understand the limitations of PCR when it comes to detecting large, full-mutation expansions.
• Analyze simulated Southern blot results to detect large CGG repeat expansions and assess FMR1 gene methylation status.

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