Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig |
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| Authors: | A Jonasdottir Hans Eiberg Birgit Kjer P Kjer Thomas Rosenberg |
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| Institution: | (1) University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics, Blegdamsvej 3 (B24.4), DK-2200 Copenhagen N, Denmark, DK;(2) Department of Ophthalmology, Hvidovre Hospital, Copenhagen, Denmark, DK;(3) National Eye Clinic for the Visually Impaired, Hellerup, Copenhagen, Denmark, DK |
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| Abstract: | Dominant optic atrophy, type Kjer, is an autosomal dominant eye disease that is characterized by progressive optic atrophy
with onset in early childhood, decrease of visual acuity, colour vision defects and centrocecal scotoma. By examination of
5 Danish families and the use of polymorphic markers, we have refined the localization of the OPA1 locus and assigned it to
a 1.4-cM interval on chromosome 3q28-3q29, between markers D3S3669 and D3S3562. This localizes the gene on a 3-Mb YAC contig
covering the disease locus. We have also located a possible candidate gene HRY to this contig.
Received: 1 April 1996 / Revised: 8 August 1996 |
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