title: [Use of dystrophin c-DNA for the direct diagnosis of Duchenne muscular dystrophy in female carriers].
abstract: DNA polymorphisms have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne Muscular Dystrophy (DMD) in affected families, but serious limitations are associated with this approach. The complementary DNA (c-ADN) of the DMD gene has recently been isolated and shown to detect partial gene deletions in a large proportion of patients. We present the study of five DMD families in which we have shown the existence of a partial deletion in the DMD gene in the affected boys. We have evaluated the usefulness of this direct approach to diagnose DMD carriers in these families using the c-DNA derived probes. In all cases we have obtained satisfactory results. The method seems to be more reliable, more rapid and less expensive than linkage studies with DNA polymorphisms.
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: E
authors.initials: E
authors.lastname: del Río
authors.forename: P
authors.initials: P
authors.lastname: Gallano
mesh_terms: D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis / Q000235:genetics*; D016189:Dystrophin; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D016189:Dystrophin; D009124:Muscle Proteins; D004247:DNA
vernacular_title: Empleo del c-ADN de la distrofina para el diagnóstico directo de portadoras de distrofia muscular de Duchenne.