Linkage of congenital hereditary endothelial dystrophy to chromosome 20

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal dominant disorder of the cornea. We have performed genetic linkage analysis with microsatellite markers on a seven generation British pedigree. Two-point linkage analysis revealed significant linkage of CHED (lod score >3) wit...

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Bibliographic Details
Published in:Human molecular genetics 1995-12, Vol.4 (12), p.2395-2398
Main Authors: Toma, N.Michael G., Ebenezer, Neil D., Inglehearn, Chris F., Plant, Catherine, Ficker, Linda A., Bhattacharya, Shomi S.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 20
Corneal Dystrophies, Hereditary - genetics
Diseases of cornea, anterior segment and sclera
Female
Humans
Male
Medical sciences
Ophthalmology
Pedigree
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Summary:Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal dominant disorder of the cornea. We have performed genetic linkage analysis with microsatellite markers on a seven generation British pedigree. Two-point linkage analysis revealed significant linkage of CHED (lod score >3) with seven marker loci mapping to chromosome 20. The highest observed lod score was 7.20 (θ = 0.026) with marker D20S114. Multipoint analysis gave a maximum lod score of 9.34 between D20S48 and D20S471. This 2.7 cM region lies within the 30 cM region recently assigned to posterior polymorphous dystrophy (PPD). PPD and CHED may therefore be allelic, or alternatively it is possible that more than one gene in this region is responsible for these two corneal dystrophies.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/4.12.2395