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Gunnar Tasa, Jaak Kals, Kai Muru, Erkki Juronen, Andres Piirsoo, Siiri Veromann, Silvi Jänes, Aavo-Valdur Mikelsaar, Aavo Lang; A Novel Mutation in the M1S1 Gene Responsible for Gelatinous Droplike Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2001;42(12):2762-2764.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To identify the genetic defect in the M1S1 gene
causing gelatinous droplike corneal dystrophy (GDLD) in an Estonian
methods. DNA was extracted from members of a GDLD-affected family and control
persons. Polymerase chain reaction followed by direct sequencing was
used to detect mutations in the M1S1 gene. Sequencing
results were confirmed with restriction analysis.
results. Sequencing of the M1S1 gene revealed a novel mutation
and a common polymorphism. All patients with GDLD were found to be
homozygous for the insertion of nucleotide C in position 520 in M1S1. The mutation leads to formation of truncated
protein. The mutation was excluded in 103 normal, unaffected
individuals. Very close to the location where the mutation was
identified in the M1S1 gene, a single-nucleotide
polymorphism (518A/C) was found, changing aspartic acid to alanine at
conclusions. The data indicate that mutation ins520C in the M1S1 gene
is the primary cause of GDLD in the family
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