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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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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.

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Authors and Affiliations

  1. University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics, Blegdamsvej 3 (B24.4), DK-2200 Copenhagen N, Denmark, , , , , , DK

    A. Jonasdottir & Hans Eiberg

  2. Department of Ophthalmology, Hvidovre Hospital, Copenhagen, Denmark, , , , , , DK

    Birgit Kjer

  3. National Eye Clinic for the Visually Impaired, Hellerup, Copenhagen, Denmark, , , , , , DK

    P. Kjer & Thomas Rosenberg

Authors
  1. A. Jonasdottir
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  2. Hans Eiberg
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  3. Birgit Kjer
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  4. P. Kjer
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  5. Thomas Rosenberg
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Received: 1 April 1996 / Revised: 8 August 1996

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Jonasdottir, A., Eiberg, H., Kjer, B. et al. Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig. Hum Genet 99, 115–120 (1996). https://doi.org/10.1007/s004390050323

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  • DOI: https://doi.org/10.1007/s004390050323

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