Physical fine-mapping of a deletion spanning the Norrie gene |
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| Authors: | P. J. Diergaarde B. Wieringa E. M. Bleeker-Wagemakers K. B. Sims X. O. Breakefield H. -H. Ropers |
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| Affiliation: | (1) Department of Human Genetics, Radboud Hospital, University of Nijmegen, P. O. Box 9101, NL-6500 HB Nijmegen, The Netherlands;(2) Ophthalmogenetic Department, The Netherlands Ophthalmic Research Institute, P.O.Box 12141, NL-1100 AC Amsterdam, The Netherlands;(3) Neurogenetics Laboratory (Neurology), Massachusetts General Hospital, 02115 Boston, MA, USA |
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| Abstract: | Summary Norrie disease (ND), atrophia bulborum hereditaria, is caused by a gene defect on the proximal short arm of the X-chromosome. As shown by us and others, microdeletions spanning the DXS7 locus are not uncommon in this disorder, and there is recent evidence that, at least in some of the Norrie deletion patients, the monoamine oxidase (MAO) A and B genes are deleted as well. Molecular hybridization experiments with 19 cloned DNA fragments have enabled us to construct a preliminary long-range restriction map around DXS77, DXS7, MAO-A and MAO-B, and to localize the distal end point of an ND deletion between DXS77 and DXS7. |
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