Abstract
Duchenne muscular dystrophy (DMD, reviewed in ref. 1) is an X-linked recessive disease affecting about 1 in 4,000 newborn boys. As in many other inherited diseases, the biochemical basis of the condition is unkown, and as yet there is no effective treatment. Translocations, deletions and other mutations leading to the DMD phenotype are distributed over a chromosomal area of large, but unknown size2,3. Using pulsed-field gradient gel electrophoresis4,5, we have now determined restriction maps of a major fraction of this area, covering two regions of three million basepairs in total, and used it to determine the position of several probes linked to DMD. The maps establish physical distances between structural changes associated with the DMD phenotype and provide evidence for a CpG-rich island proximal to the area containing translocations and deletions associated with the DMD phenotype.
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Burmeister, M., Lehrach, H. Long-range restriction map around the Duchenne muscular dystrophy gene. Nature 324, 582–585 (1986). https://doi.org/10.1038/324582a0
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DOI: https://doi.org/10.1038/324582a0
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