Human Molecular Genetics, Vol 5, 1667-1672, Copyright © 1996 by Oxford University Press
AM Shearman, TJ Hudson, JM Andresen, X Wu, RL Sohn, F Haluska, DE Housman and JS Weiss
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, unesterified 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.
ARTICLES
The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36
Department of Biology, Massachusetts Institute of Technology, Cambridge 02139, USA.
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