Exclusion of candidate genetic loci for Duane retraction syndrome.

Abstract

PURPOSE:

To report preliminary linkage analysis of a large Hispanic family showing autosomal dominant inheritance for Duane retraction syndrome.

METHODS:

Microsatellite analysis was used to examine genomic DNA isolated from members of a large family with autosomal dominant Duane retraction syndrome for linkage to candidate loci for Duane retraction syndrome. Chromosomes 4, 8, and 22 were chosen for study because previous reports had documented karyotypic abnormalities in unrelated patients with Duane retraction syndrome.

RESULTS:

No lod scores over 0.5 were found for markers on chromosomes 4, 8, or 22. This analysis excludes these candidate sites.

CONCLUSIONS:

Studies do not support linkage between Duane retraction syndrome in this family and chromosomes 4, 8, and 22. Duane retraction syndrome may result from mutations in a heterogeneous group of genes.

• Authors: S Ott, M Borchert, M Chung, B Appukuttan, X Wang, K Weinberg, J T Stout
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 127 Issue 3 Pg. 358-60 (Mar 1999) ISSN: 0002-9394 [Print] United States
• PMID: 10088756 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA

Topics

• Chromosomes, Human, Pair 22 (genetics)
• Chromosomes, Human, Pair 4 (genetics)
• Chromosomes, Human, Pair 8 (genetics)
• DNA (analysis)
• Duane Retraction Syndrome (genetics)
• Female
• Genetic Linkage
• Humans
• Male
• Microsatellite Repeats (genetics)
• Pedigree