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Research Article
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
  1. C Y Gregory,
  2. K Evans,
  3. S S Bhattacharya
  1. Department of Molecular Genetics, Institute of Ophthalmology, London, UK.

    Abstract

    Lattice corneal dystrophy type I (LCDI) is a relatively common corneal dystrophy which can cause severe visual impairment. Recent studies have suggested a genetic localisation for the disease to chromosome 5q. Independent genetic linkage analysis in a six generation LCDI pedigree confirmed linkage to the 5q region bounded by marker loci IL9 and D5S436 suggesting genetic homogeneity. A maximum two point lod score of 7.51 (theta = 0.03) was obtained with marker D5S393. Multipoint and haplotype data positioned the disease between loci D5S393 and D5S396 corresponding to a genetic distance of 2cM, thus refining linkage sufficiently to allow for physical mapping of this disorder.

    https://doi.org/10.1136/jmg.32.3.224

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