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  • Title: [Use of dystrophin c-DNA for the direct diagnosis of Duchenne muscular dystrophy in female carriers].
    Author: Baiget M, del Río E, Gallano P.
    Journal: Neurologia; 1989 Oct; 4(8):268-76. PubMed ID: 2576910.
    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.
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