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Science 25 September 1987:
Vol. 237. no. 4822, pp. 1620 - 1624
DOI: 10.1126/science.3629260
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Articles

Science, Vol 237, Issue 4822, 1620-1624
Copyright © 1987 by American Association for the Advancement of Science

articles

Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy

SE Bodrug, PN Ray, IL Gonzalez, RD Schmickel, JE Sylvester, and RG Worton

The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the X chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the DMD/BMD locus to cause the disease. One affected female with a t(X;21)(p21;p12) translocation was studied in detail. The exchange points from both translocation chromosomes were cloned, restriction-mapped, and sequenced. The translocation is reciprocal, but not conservative. A small amount of DNA is missing from the translocated chromosomes; 71 to 72 base pairs from the X chromosome and 16 to 23 base pairs from the 28S ribosomal gene on chromosome 21.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Ultra-high resolution array painting facilitates breakpoint sequencing.
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J. Med. Genet. 44, 51-58
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A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.
A. L. Gotter, T. H. Shaikh, M. L. Budarf, C. H. Rhodes, and B. S. Emanuel (2004)
Hum. Mol. Genet. 13, 103-115
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Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation.
A Aboura, P Labrune, F Perreaux, V Poncet, S Brisset, L Foix-L'Helias, and G Tachdjian (2003)
J. Med. Genet. 40, e6-6
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Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
M Gessler, K. Simola, and G. Bruns (1989)
Science 244, 1575-1578
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Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end.
R. Worton, J Sutherland, J. Sylvester, H. Willard, S Bodrug, I Dube, C Duff, V Kean, P. Ray, and R. Schmickel (1988)
Science 239, 64-68
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