Choroideremia in interstitial deletion of the X chromosome
Ophthalmic Paediatrics and Genetics
|December 1, 1986
Abstract:
An earlier reported family with a deletion of the proximal long arm of the X chromosome was reinvestigated with special attention to the presence of choroideremia. Two females were identified as carriers of choroideremia while a tapeto-retinal dystrophy was ascertained in a mentally retarded boy. RFLP analysis revealed that the interstitial deletion covered the locus DXYS1 and not DXS17. Chromosome studies indicated a deletion within the Xq21 area.
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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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