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Related Experiment Videos

Aland eye disease: linkage data.

M Schwartz1, T Rosenberg

  • 1Department of Pediatrics, University Hospital, Copenhagen, Denmark.

Genomics
|June 1, 1991
PubMed
Summary
This summary is machine-generated.

Researchers identified the genetic location of Aland Island eye disease (AIED) on the X chromosome. Linkage analysis suggests AIED is located on the proximal short arm of the X chromosome, differing from previous findings.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Human Molecular Genetics

Background:

  • Aland Island eye disease (AIED) is a rare genetic disorder affecting vision.
  • Previous studies suggested a different chromosomal location for AIED.

Purpose of the Study:

  • To determine the precise genetic locus of Aland Island eye disease (AIED).
  • To refine the chromosomal assignment of AIED using linkage analysis.

Main Methods:

  • Linkage analysis was performed on a large Danish family with AIED.
  • Sixteen polymorphic DNA markers spanning the X chromosome were utilized.
  • Lod scores were calculated to assess the probability of linkage between AIED and marker loci.

Main Results:

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  • Positive lod scores were obtained for marker loci DXS255 and TIMP on the proximal short arm of the X chromosome (Zmax = 3.93 and 3.18 at theta = 0.0).
  • These findings suggest the AIED locus is situated in this region.
  • Recombination was observed with locus DXS7 and other distal loci, indicating the AIED locus is proximal to DXS7.

    • Conclusions:

    • The locus for Aland Island eye disease (AIED) is assigned to the proximal short arm of the X chromosome.
    • These results contradict previous mapping of AIED to Xp21 based on deletion studies.