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Literature DB >> 7783175

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

C Y Gregory¹, K Evans, S S Bhattacharya.

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.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 1995 PMID： 7783175 PMCID： PMC1050323 DOI： 10.1136/jmg.32.3.224

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

10 in total

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10 in total

4 in total

1. Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy.

Authors: Y Mashima; Y Imamura; M Konishi; A Nagasawa; M Yamada; Y Oguchi; J Kudoh; N Shimizu
Journal: Am J Hum Genet Date: 1997-12 Impact factor: 11.025