A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

Duchenne muscular dystrophy (DMD) is the most common of the muscular dystrophies affecting one in 3,000 live male births. Both DMD and the mild form, Becker muscular dystrophy (BMD), are X-linked. There are a number of females affected by the disease who all possess an X-autosome translocation, with the exchange point in the X always occurring within chromosome band Xp21. This, together with linkage and deletion data, has localized the gene at band Xp21. DNA fragments from this region have been cloned using a patient with a large Xp21 deletion and from a patient with a t(X:21) translocation. The former clones (pERT 87) comprise the DXS164 locus and the latter clones (XJ) the DXS206 locus. Subclones from both regions allow the detection of deletions in approximately 11% of DMD patients. A fetal muscle complementary DNA clone corresponding to exons in the DXS164 locus has been isolated and detects a 16-kilobase (kb) transcript. We present the isolation of an adult muscle cDNA clone from the DXS206 locus that detects a 16-kb mRNA in adult human muscle. The cDNA clone contains exons that map in the DXS206 locus, the DXS164 locus, and on the centromeric side of these cloned regions. The t(X;21) translocation exchange points occurs within a large intron of 105 kb or larger, indicating that the translocation has disrupted the DMD/BMD gene to cause the disease in this patient.