Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene

Hum Genet. 1992 Dec;90(4):407-12. doi: 10.1007/BF00220468.


There are rare female patients who suffer from Duchenne or Becker muscular dystrophy because they carry an X;autosome translocation with a breakpoint in the dystrophin gene. We have defined the positions of seven of these breakpoints with respect to exon-containing HindIII fragments detected by dystrophin cDNA. One breakpoint lies between exon-containing HindIII fragments 7 and 8, five breakpoints between exon-containing HindIII fragments 31 to 41, and one lies close to exon-containing-HindIII fragment 50. The distribution of these and of a further seven translocation breakpoints whose positions are known is compared with that reported for deletions and duplications in affected males.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blotting, Southern
  • Chromosome Mapping
  • Cricetinae
  • Cricetulus
  • Dystrophin / genetics*
  • Exons*
  • Female
  • Humans
  • Hybrid Cells
  • Mice
  • Muscular Dystrophies / genetics*
  • Translocation, Genetic*
  • X Chromosome*


  • Dystrophin