Detection of carriers of human Duchenne muscular dystrophy by freeze-fracture analysis of erythrocyte plasmalemmal intramembrane particles.

Critical examination of plasma membrane particles on fracture faces of erythrocyte plasma membranes of human obligate carriers of Duchenne muscular dystrophy, control patients, and a patient afflicted with Duchenne muscular dystrophy revealed a 32% decrease in the number of intramembrane particles in erythrocytes of carriers compared with erythrocytes sampled from control patients. These results support the notion that quantitative analysis of intramembrane particles in freeze-fractured erythrocyte plasma membranes represents a new, rapid, simple, and highly accurate diagnostic tool for detection of carriers of human Duchenne muscular dystrophy.