242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
| Autor: | F.H. Herrmann, Basil T. Darras, J. Poncin, Elizabeth F. Gillard, Catherine Boileau, Giovanni Romeo, C. Boehm, Marianne Schwartz, H. Gilgenkrantz, J.T. den Dunnen, G. Galluzi, M. Lindlöf, Margaret Denton, G.J.B. van Ommen, Charles T. Caskey, Kenneth H. Fischbeck, Uta Francke, Egbert Bakker, L. Baumbach, E. Schröder, C. Van Broeckhoven, Clemens R. Müller, Sue Malcolm, L. A. J. Blonden, A. E. Covone, T. Matsumoto, C. Verellen, Martin Bobrow, Sabina Liechti-Gallati, Norio Niikawa, E. Robertson, P.M. Grootscholten, Stephen Abbs, Jeffrey S. Chamberlain, Jean-Claude Kaplan, Hans Scheffer, Ronald G. Worton, L. Felicetti, Claudine Junien, A. Walker |
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| Jazyk: | angličtina |
| Rok vydání: | 1991 |
| Předmět: |
Male
X Chromosome RECOMBINATION Biology SEQUENCE Muscular Dystrophies DUCHENNE MUSCULAR-DYSTROPHY Dystrophin 03 medical and health sciences 0302 clinical medicine Restriction map Gene mapping Gene Frequency Genetics Humans Gene 030304 developmental biology Recombination Genetic 0303 health sciences SITES MUTATIONS ORIGIN Breakpoint Intron Chromosome Mapping CLUSTER CDNA REGIONS Cosmids Restriction enzyme Genes CELLS Cosmid Female Restriction fragment length polymorphism Chromosome Deletion 030217 neurology & neurosurgery Polymorphism Restriction Fragment Length |
| Zdroj: | Genomics: international journal of gene mapping and nucleotide sequencing GENOMICS, 10(3), 631-639. ACADEMIC PRESS INC ELSEVIER SCIENCE |
| ISSN: | 0888-7543 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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