HOMOZYGOSITY MAPPING OF A GENE RESPONSIBLE FOR GELATINOUS DROP-LIKE CORNEAL-DYSTROPHY TO CHROMOSOME 1P

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal rece ssive 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 maxim um LOD score of 9.80 at the D1S2741 marker locus on the short arm of c hromosome 1. Haplotype analysis further defined the disease locus with in a region of similar to 2.6 cM between D1S2890 and D1S2801.