Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p.
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- Record sourced from PubMed, PMID 9758629.
- Also identified by PMC identifier 1377503.
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Abstract
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 approximately 2.6 cM between D1S2890 and D1S2801.
Medical subject headings
- Chromosomes, Human, Pair 1
- Corneal Dystrophies, Hereditary