MINOR XP21 CHROMOSOME DELETION IN A MALE ASSOCIATED WITH EXPRESSION OF DUCHENNE MUSCULAR-DYSTROPHY, CHRONIC GRANULOMATOUS-DISEASE, RETINITIS PIGMENTOSA, AND MCLEOD SYNDROME

Authors:
  • UFU FRANCKE
    U FRANCKE
  • HOHD OCHS
    HD OCHS
  • BDB DEMARTINVILLE
    B DEMARTINVILLE
  • JGJ GIACALONE
    J GIACALONE
  • VLValerie LINDGREN
    Valerie LINDGREN
  • CDC DISTECHE
    C DISTECHE
  • RPRA PAGON
    RA PAGON
  • MHMH HOFKER
    MH HOFKER
  • GVGJB VANOMMEN
    GJB VANOMMEN
  • PPPL PEARSON
    PL PEARSON
  • RWRJ WEDGWOOD
    RJ WEDGWOOD
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  • 1 January 1985
    • journal article
    • research article
Abstract
A male patient is reported who suffered from chronic granulomatous disease associated with cytochrome b-245 deficiency and MeLeod red cell phenotype, Duchenne muscular dystrophy and retinitis pigmentosa. On cytogenetic analysis, he seemed to have a very subtle interstitial deletion of part of band Xp21. Since it was impossible to know whether this material was truly deleted or inserted elsewhere in the genome, somatic cell and molecular studies were carried out. In somatic cell hybrids, the deleted X chromosome was isolated on a Chinese hamster background. Southern blot analysis with 20 single-copy probes, that were mapped to the X short arm, led to the discovery of one (probe 754) that is missing from this patient''s X chromosome and also from his total DNA. This proves that he, indeed, has a deletion rather than a balanced insertion. The results provide cytological mapping information for the X-linked phenotypes present in this patient. Probe 754 recognizes a restriction fragment length polymorphism of high frequency that makes it the most powerful probe currently available for linkage studies with X-linked muscular dystrophy.

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