Homozygosity Mapping of a Gene Responsible for Gelatinous Drop–like Corneal Dystrophy to Chromosome 1p

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Summary

Gelatinous drop–like corneal dystrophy (GDLD) is a rare autosomal recessive disorder characterized clinically by grayish corneal deposits of amyloid and by severely impaired visual acuity. Most patients require corneal transplantation. To localize a gene responsible for GDLD, we performed linkage analysis of 10 consanguineous Japanese families with a total of 13 affected members. Homozygosity mapping provided a maximum LOD score of 9.80 at the D1S2741 marker locus on the short arm of chromosome 1. Haplotype analysis further defined the disease locus within a region of ∼2.6 cM between D1S2890 and D1S2801.

Gelatinous drop–like corneal dystrophy
Corneal dystrophy
Linkage analysis
Homozygosity mapping
Chromosome 1p
Linkage disequilibrium

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