title: Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
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.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
authors.forename: C Y
authors.initials: CY
authors.lastname: Gregory
authors.forename: K
authors.initials: K
authors.lastname: Evans
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011153:Population
chemical_list: D005819:Genetic Markers