Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.

AUTOR(ES)

Gregory, C Y

RESUMO

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.

Documentos Relacionados

• Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
• Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.
• Corneal elastosis within lattice dystrophy lesions.
• Dinucleotide repeat polymorphism at the D5S260 locus on chromosome 5q
• Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.