Freeze-fracture analysis of intramembrane particles of erythrocytes from normal, dystrophic, and carrier mice. A possible diagnostic tool for detection of carriers of human muscular dystrophy.

Careful examination of plasma membrane protein particles on fractures faces of erythrocyte plasma membranes from mice with muscular dystrophy, carriers of the sex-linked recessive gene for this disease, and from nondystrophic control animals revealed a 42% decrease in the number of intramembrane particles in erythrocytes of carriers (and a 33% decrease in dystrophic erythrocytes) compared with samples from control animals. These results support the notion that quantitative analysis of intramembrane particles in freeze-fractured erythrocyte plasma membranes may represent a new, rapid, simple, and highly accurate diagnostic tool for detection of carriers of human muscular dystrophy.