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  • Title: Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.
    Author: Small KW, Mullen L, Barletta J, Graham K, Glasgow B, Stern G, Yee R.
    Journal: Am J Ophthalmol; 1996 Apr; 121(4):384-90. PubMed ID: 8604731.
    Abstract:
    PURPOSE: Recently several autosomal dominant corneal stromal dystrophies have been mapped to chromosome 5q. Therefore, we tested whether Reis-Bücklers' corneal dystrophy, an autosomal dominant trait, was also linked to the same region. METHODS: Five generations of a single family with Reis-Bücklers' corneal dystrophy were ascertained. Twenty-two family members were examined, and 11 were found to be affected. Blood was obtained for genetic linkage analysis. RESULTS: Several genetic markers on chromosome 5q were strongly suggestive of linkage or confirmed linkage (LOD score > 3.0). Multipoint analysis generated a maximum LOD score of 4.25 between D5S414 and IL-9. CONCLUSIONS: Reis-Bücklers', lattice type 1, Avillino, and granular corneal dystrophies all map to the same genetic locus. This suggests that one of the following might be true: (1) that a corneal gene family exists in this region; (2) that these corneal dystrophies represent allelic heterogeneity (that is, different mutations within the same gene manifest as different phenotypes); or (3) that these are all the same disease.
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