A Novel 7 Base Deletion in the Gene on Chromosome 21 for Diagnostic of Keratoconus
Background: Keratoconus is a noninflammatory progressive corneal thinning disorder leading to mixed myopic and irregular astigmatism and is implicated as a major cause of cornea transplants in the Western world. Genetic factors have been suggested as a cause of keratoconus. The stromal thinning of keratoconus corneas is related to increase in degradative enzyme activities. In addition, keratoconus corneas have an abnormal accumulation of cytotoxic byproducts. This may be due to alterations in the processing of reactive oxygen species.
Genetic studies have identified at least four locus for Keratoconus. Technology: UCI inventors performed screening of candidate genes in an attempt to find DNA alterations associated with keratoconus. We screened 16 affected individuals representing unrelated families. All 5 exons of the CONFIDENTIAL gene on human chromosome 21 were sequenced from the DNA of these patients. We identified a 7 base intronic deletion in two keratoconus families. This change segregated within the family and was absent in 200 normal chromosomes. Our results suggest a direct involvement of CONFIDENTIAL gene in the pathophysiology of keratoconus. Application: Diagnostic method: A novel 7 base deletion in the superoxide dismutase gene (SODA) on chromosome 21 for diagnostic and prognostic use in patients with keratoconus, amyotrophic lateral sclerosis (ALS) and Down syndrome.
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