title: Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection.
abstract: Duchenne muscular dystrophy (DMD) is a disorder whose pathogenesis is attributed, according to the most recent theories, to generalized membrane abnormalities, including red cell membrane. The study of erythrocyte ghosts in patients affected by DMD showed alterations in ion transport and in various enzymatic activities. Employing a spectrofluorometric method using 1-anilino-8-naphthalene sufonate (1.8-ANS) we have tried to characterize the erythrocyte ghosts of DMD patients, definite DMD carriers and normal controls, matched for age and sex. We found an increase of membrane polarity in DMD and definite DMD-carrier erythrocyte ghosts. Using this new method we were able to: - confirm by means of a different technique the previous observations of many authors on erythrocyte ghost alterations in DMD - find a new technique useful in detecting the DMD carriers. It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test.
mesh_terms: D000328:Adult; D000367:Age Factors; D000817:Anilino Naphthalenesulfonates; D002463:Cell Membrane Permeability; D002648:Child; D002675:Child, Preschool; D004910:Erythrocyte Membrane / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology*; D006580:Genetic Carrier Screening; D006801:Humans; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D012737:Sex Factors; D013050:Spectrometry, Fluorescence
chemical_list: D000817:Anilino Naphthalenesulfonates