Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia |
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| Authors: | M. Schwartz H. -M. Yang E. Niebuhr T. Rosenberg D. C. Page |
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| Affiliation: | (1) Section of Clinical Genetics 4062, Department of Pediatrics, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen Ø, Denmark;(2) Institute of Medical Genetics, University of Copenhagen, DK-2200 Copenhagen, Denmark;(3) National Eye Clinic for the Visually Impaired, DK-2900 Copenhagen, Denmark;(4) Whitehead Institute for Biomedical Research, Nine Cambridge Center, 02142 Cambridge, MA, USA |
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| Abstract: | Summary In two unrelated families, males have been identified who suffer from choroideremia and at the same time have an interstitial deletion on the proximal long arm of the X chromosome. By high-resolution banding we have characterized the deletion chromosomes as del(X)(q21.1-q21.33) and del(X)(q21.2-q21.31) respectively. By Southern blot analysis we have mapped ten different polymorphic DNA loci relative to the position of the deletion and the choroideremia locus TCD. One probe, p31, was shown to cover one of the breakpoints of the smallest deletion. The following order of the loci was suggested by deletion mapping: cen-DXS106-DXS72-TCD-(DXYS1/DXYS23/DXYS5)-DXYS2-(DXYS12/DXS3)-(DXS17/DXS101)-Xqter. |
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