[Use of the direct capping technic in lymphocytes for the detection of women carrying the Duchenne type muscular dystrophy].
Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive condition. The detection of female carriers is important for genetic counseling but no precise method is available in our country. Based on the demonstration by other authors of an impaired lymphocyte "capping" in DMD patients and carriers, we evaluated the usefulness of this method in the detection of DMD carriers. Nineteen control subjects, 9 obligate carriers, 6 DMD patients, and 10 probable carriers, were studied. The analysis of variability intra and interobserver of the results of "capping" showed variation coefficients of 17% and 19%, respectively. The comparison of groups (F test) showed no difference between controls, obligate carriers and DMD patients. When a diagnostic value of 30 was chosen, we obtained 78% specificity and 40% sensitivity. It was concluded that, under the conditions of this study, we were unable to demonstrate a diminished lymphocyte "capping" in DMD patients and carriers as compared with normal subjects.
Mayén
D G
DG
Carnevale
A
A
Galindo
A
A
Cid
M
M
Berrón
R
R
del Castillo
V
V
D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007152:Immunologic Capping; D008214:Lymphocytes / Q000276:immunology; D009136:Muscular Dystrophies / Q000097:blood / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D011237:Predictive Value of Tests
D003402:Creatine Kinase
Empleo de la técnica directa de "capping" en linfocitos para la detección de mujeres portadoras de distrofia muscular tipo Duchenne.