242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread

L. A J Blonden, P. M. Grootscholten, J. T. den Dunnen, E. Bakker, S. Abbs, M. Bobrow, C. Boehm, C. van Broeckhoven, L. Baumbach, J. Chamberlain, C. T. Caskey, M. Denton, L. Felicetti, G. Galluzi, K. H. Fischbeck, U. Francke, B. Darras, H. Gilgenkrantz, J. C. Kaplan, F. H. HerrmannC. Junien, C. Boileau, S. Liechti-Gallati, M. Lindlöf, T. Matsumoto, N. Niikawa, C. R. Müller, J. Poncin, S. Malcolm, E. Robertson, G. Romeo, A. E. Covone, H. Scheffer, E. Schröder, M. Schwartz, C. Verellen, A. Walker, R. Worton, E. Gillard, G. J B van Ommen

Research output: Contribution to journalArticlepeer-review


Using whole cosmids as probes, we have mapped 242 DMD BMD deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females.

Original languageEnglish
Pages (from-to)631-639
Number of pages9
Issue number3
Publication statusPublished - 1991

ASJC Scopus subject areas

  • Genetics


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