Journal Article

The Gene for Schnyder's Crystalline Corneal Dystrophy Maps to Human Chromosome 1p34.1–p36

Amanda M. Shearman, Thomas J. Hudson, J. Michael Andresen, Xiaoyun Wu, Robert L. Sohn, Frank Haluska, David E. Housman and Jayne S. Weiss

in Human Molecular Genetics

Volume 5, issue 10, pages 1667-1672
Published in print October 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.10.1667
The Gene for Schnyder's Crystalline Corneal Dystrophy Maps to Human Chromosome 1p34.1–p36

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Schnyder's crystalline corneal dystrophy (SCCD) is an autosomal dominant eye disease characterized by a bilateral clouding of the central cornea, arcus lipoides and/or visible crystalline deposits of cholesterol in the stroma. There is accumulation of phospholipid, unes-terified cholesterol and cholesterol ester in the corneal stroma; this is believed to be due to an imbalance in the local factors affecting lipid/cholesterol transport or metabolism. The cellular mechanism of abnormal lipid transport and metabolism in SCCD is of interest due to its potential involvement in atherosclerosis, and its implications for the pathogenesis of cerebrovascular, coronary and peripheral vascular disease as well as corneal opacification. To determine the chromosomal location of the SCCD locus, genome-wide linkage analysis has been performed in two large Swede-Finn kindreds recently identified in central Massachusetts. After analysing 300 microsatellite markers >90% of the genome was excluded from linkage to the SCCD locus. We now report the chromosomal assignment of the gene for SCCD in both families to be 1p34.1–p36; the maximum multipoint lod-score was 8.48 in the interval between D1S214 and D1S503. From haplotype analysis, the SCCD locus lies in the 16 cM interval between markers D1S2663 and D1S228. Several candidate genes for SCCD have been localized to the 1p34.1–p36 interval.

Journal Article.  3394 words.  Illustrated.

Subjects: Genetics and Genomics

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