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

✍ Scribed by D. J. Cockburn; E. A. Munro; I. W. Craig; Y. Boyd

Publisher: Springer
Year: 1992
Tongue: English
Weight: 690 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220468

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✦ Synopsis

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.

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