© 1992 Oxford University Press
RESEARCH-ARTICLE |
The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3
1Neuroscience Center (Neurology), Massachusetts General Hospital East Building 149, 13th Street, Charlestown, MA 02129 2Department of Obstetrics, Gynecology and Reproductive Sciences, U-262 University of California San Francisco, CA 94143 3Health Sciences and Technology Program, Harvard Medical School 25 Shattuck Street, Boston, MA 02115 4Genetics Department, Children's Hospital 300 Longwood Avenue, Boston, MA 02115, USA 5Genetics Laboratory, Department of Biochemistry, University of Oxford Oxford, UK
*To whom correspondence should be addressed
Received March 4, 1992; Revised April 6, 1992; Accepted April 6, 1992
Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3. We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date. Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration. A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene. An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene. An Alu-PCR fragment from the right arm of the MAOYAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region. The apparent order of these loci is telomere... DXS7-MAOA-MAOB-NDP-dc12-YMAO· AluR...centromere. Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb.
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