Edvotek® Decoding Fragile X Syndrome

How do you screen for a genetic condition?

• Simulate PCR and southern blot results

• Understand the cause of fragile X syndrome

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.

Informations de commande: Depending on when this item ships, you will receive either a coupon or an included consumables package. If this item is delivered between June 1 and August 1, it will include a coupon that needs to be redeemed with the manufacturer.