Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
Open Access
- 1 March 1995
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (3) , 224-226
- https://doi.org/10.1136/jmg.32.3.224
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.Keywords
This publication has 11 references indexed in Scilit:
- Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortionNature Genetics, 1994
- Phenotypic Variation in Combined Granular-Lattice (Avellino) Corneal DystrophyArchives of Ophthalmology (1950), 1993
- Superficial Granular Corneal Dystrophy With Amyloid DepositsArchives of Ophthalmology (1950), 1993
- Dinucleotide repeat polymorphism at the D5S178 locusHuman Molecular Genetics, 1993
- Avellino Corneal DystrophyOphthalmology, 1992
- Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187Nature Genetics, 1992
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Linkage analysis in lattice corneal dystrophyAmerican Journal of Medical Genetics, 1984
- Strategies for multilocus linkage analysis in humans.Proceedings of the National Academy of Sciences, 1984
- Meretoja SyndromeOphthalmologica, 1979