title: 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.
abstract: 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.
mesh_terms: D000818:Animals; D001798:Blood Proteins / Q000032:analysis*; D004910:Erythrocyte Membrane / Q000648:ultrastructure*; D004912:Erythrocytes / Q000648:ultrastructure*; D005614:Freeze Fracturing; D005808:Genes, Recessive; D006580:Genetic Carrier Screening / Q000379:methods*; D008565:Membrane Proteins / Q000032:analysis*; D051379:Mice; D009137:Muscular Dystrophy, Animal / Q000097:blood* / Q000175:diagnosis / Q000235:genetics
chemical_list: D001798:Blood Proteins; D008565:Membrane Proteins