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Physical fine-mapping of a deletion spanning the Norrie gene

✍ Scribed by P. J. Diergaarde; B. Wieringa; E. M. Bleeker-Wagemakers; K. B. Sims; X. O. Breakefield; H. -H. Ropers

Publisher
Springer
Year
1989
Tongue
English
Weight
804 KB
Volume
84
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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