Detection of the pathogenic copy number variations by combination of pulse-filed electrophoresis and PCR

MIkhail Skoblov, Andre Marakhonov, Ancha Baranova

This is a collaborative project between

Molecular and Microbiology Department, College of Science,George Mason University, Fairfax, VA

Research Center for Medical Genetics, RAMS, Moscow, Russia

Facio-Scapulo-Humeral Dystrophy (FSHD) is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the FSHD-associated gene(s) through position effect mechanisms. It has been shown recently that D4Z4 acts as an insulator that interferes with enhancer-promoter communication and protects transgenes from position effect.

We developed a novel, less laborious method to detect FSHD syndrome in yet-to-become-symptomatic patients. Details will be disclosed soon.