Skip to main content

Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig

Human Genetics volume 99, pages 115–120 (1996)Cite this article

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.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

Author information

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
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hans Eiberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Birgit Kjer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. P. Kjer
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Thomas Rosenberg
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Received: 1 April 1996 / Revised: 8 August 1996

Rights and permissions

Reprints and Permissions

About this article

Cite this article

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

Download citation

  • Issue Date:

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

Keywords

  • Candidate Gene
  • Visual Acuity
  • Early Childhood
  • Vision Defect
  • Disease Locus