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A large gene locus for Duchenne muscular dystrophy. Hideo SUGITA 1 1Division of Neuromuscular Research, National Institute of Neuroscience, NCNP pp.1049-1057
Published Date 1987/12/10
DOI https://doi.org/10.11477/mf.1431905959
  • Abstract
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 Duchenne muscular dystrophy (DMD) is the progressive muscle wasting disease inherited as X-linked recessive trait, but about one third of cases appear as new mutation which is higher than any other X-linked genetic diseases.

 In DMD the application of "reverse genetics" could access to the isolation of the responsible gene. There are rare cases of DMD in girls who have been found to be heterogenous for balanced X; autosome translocations. In all cases so far reported, the breakpoint has been at Xp21, whereas the autosome involved was different ineach case. In these females, it is assumed thatthe translocation disrupts the DMD gene on theXchromosQme and that the diseasc phenotyperesults from the preferential inactivation of thenormal X chromosome. The band Xp210n theshort arm of the X chromosome has been pin-pointed as the site of DMD gene locus.


Copyright © 1987, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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