Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Site Tools

  • AAAS
  • Subscribe
  • Feedback

Site Search

Search Advanced

Science 29 June 1984:
Vol. 224. no. 4656, pp. 1447 - 1449
DOI: 10.1126/science.6729462
Prev | Table of Contents | Next

Articles

Science, Vol 224, Issue 4656, 1447-1449
Copyright © 1984 by American Association for the Advancement of Science

articles

Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes

RG Worton, C Duff, JE Sylvester, RD Schmickel, and HF Willard

Duchenne muscular dystrophy (DMD) is a severe X-linked disorder leading to early death of affected males. Females with the disease are rare, but seven are known to be affected because of a chromosomal rearrangement involving a site at or near the dmd gene on the X chromosome. One of the seven has a translocation between the X and chromosome 21. The translocation-derived chromosomes from this patient have been isolated, and the translocation is shown to have split the block of genes encoding ribosomal RNA on the short arm of chromosome 21. Thus ribosomal RNA gene probes may be used to identify a junction fragment from the translocation site, allowing access to cloned segments of the X at or near the dmd gene and presenting a new approach to the study of this disease.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.
D Johnson, N Morrison, L Grant, T Turner, J Fantes, J M Connor, and V Murday (2006)
J. Med. Genet. 43, 280-284
   Abstract »    Full Text »    PDF »
The Duchenne Dystrophy Story: From Phenotype to Gene and Potential Treatment.
V. Dubowitz (1989)
J Child Neurol 4, 240-250
   PDF »
Review Article: Dystrophin-Related Muscular Dystrophies.
J.A. Witkowski (1989)
J Child Neurol 4, 251-271
   Abstract »    PDF »
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
   Abstract »    PDF »
Autosomal Dominant Congenital Cataract Associated With Chromosomal Translocation [t(3;4)(p26.2;p15) ].
P. D. Reese, C. M. Tuck-Muller, and I. H. Maumenee (1987)
Arch Ophthalmol 105, 1382-1384
   Abstract »    PDF »
Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.
S. Bodrug, P. Ray, I. Gonzalez, R. Schmickel, J. Sylvester, and R. Worton (1987)
Science 237, 1620-1624
   Abstract »    PDF »
Duchenne Muscular Dystrophy in a 46 XY Female.
E.A. Wulfsberg and R.R. Skoglund (1986)
Clinical Pediatrics 25, 276-278
   Abstract »    PDF »
A balanced translocation in mice with a neurological defect.
J. Rutledge, K. Cain, N. Cacheiro, C. Cornett, C. Wright, and W. Generoso (1986)
Science 231, 395-397
   Abstract »    PDF »
Analysis of an X-autosome Translocation Responsible for X-linked Muscular Dystrophy.
R.G. Worton, P.N. Ray, S. Bodrug, and M.W. Thompson (1986)
Cold Spring Harb Symp Quant Biol 51, 345-348
   Abstract »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)