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

Published

Journal Article

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.

Full Text

Cited Authors

  • Worton, RG; Duff, C; Sylvester, JE; Schmickel, RD; Willard, HF

Published Date

  • June 1, 1984

Published In

Volume / Issue

  • 224 / 4656

Start / End Page

  • 1447 - 1449

PubMed ID

  • 6729462

Pubmed Central ID

  • 6729462

Electronic International Standard Serial Number (EISSN)

  • 1095-9203

International Standard Serial Number (ISSN)

  • 0036-8075

Digital Object Identifier (DOI)

  • 10.1126/science.6729462

Language

  • eng