Human Genetics

, Volume 84, Issue 1, pp 22–26 | Cite as

Physical fine-mapping of a deletion spanning the Norrie gene

  • P. J. Diergaarde
  • B. Wieringa
  • E. M. Bleeker-Wagemakers
  • K. B. Sims
  • X. O. Breakefield
  • H. -H. Ropers
Original Investigations
Received:
Revised:

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.

Keywords

Monoamine Monoamine Oxidase Hybridization Experiment Gene Defect Molecular Hybridization 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • P. J. Diergaarde
    • 1
  • B. Wieringa
    • 1
  • E. M. Bleeker-Wagemakers
    • 2
  • K. B. Sims
    • 3
  • X. O. Breakefield
    • 3
  • H. -H. Ropers
    • 1
  1. 1.Department of Human GeneticsRadboud Hospital, University of NijmegenNijmegenThe Netherlands
  2. 2.Ophthalmogenetic DepartmentThe Netherlands Ophthalmic Research InstituteAC AmsterdamThe Netherlands
  3. 3.Neurogenetics Laboratory (Neurology)Massachusetts General HospitalBostonUSA

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