Journal article
Three autosomal dominant corneal dystrophies map to chromosome 5q
Nature genetics, Vol.6(1), pp.47-51
01/1994
DOI: 10.1038/ng0194-47
PMID: 8136834
Abstract
The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease-causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid-associated genes map to chromosome 5.
Details
- Title: Subtitle
- Three autosomal dominant corneal dystrophies map to chromosome 5q
- Creators
- Edwin M Stone - Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242William D MathersGeorge O D RosenwasserEdward J HollandRobert FolbergJay H KrachmerBrian E NicholsPeter D GorevicChris M TaylorLuan M StrebJill A FishbaughThomas E Daley - University of IowaBrian M Sucheski - Penn State Milton S. Hershey Medical CenterVal C Sheffield - University of Iowa, Medical Genetics and Genomics
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.6(1), pp.47-51
- Publisher
- United States
- DOI
- 10.1038/ng0194-47
- PMID
- 8136834
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Grant note
- HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS EY08426 / NEI NIH HHS
- Language
- English
- Date published
- 01/1994
- Academic Unit
- Stead Family Department of Pediatrics; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979966902771
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