Purpose: To identify inherited or acquired mutations in the and genes from the combined analysis of corneal and blood samples from patients with Keratoconus.
Methods: The casuistry was consisted of samples of peripheral blood and corneal epithelium from 35 unrelated patients with Keratoconus who were submitted to corneal crosslink treatment. Also, blood and corneal epithelium samples from 89 non-keratoconic patients were used to compose the control group. Ophthalmologic evaluations included a clinical examination, topography and tomography. DNA samples were extracted from peripheral blood and from corneal epithelium in both groups and all coding regions of the genes were amplified by polymerase chain reaction, denatured and subjected to polyacrylamide gel electrophoresis. Mutational screening was performed by singletrand conformation polymorphism and direct DNA sequencing.
Results: No pathogenic variant was found in all coding regions of and genes, we detected only few SNPs (single-nucleotide polymorphisms). Among the polymorphisms stand out three of them, corresponding to the synonymous exchange of amino acids: exon 3 of Ala182Ala and exon 3 of His83His and Ser87Ser; in patients with Keratoconus and also in control subjects. All the polymorphisms were found in samples of corneal epithelium and corresponding blood.
Conclusion: There is absence of KC pathogenic related to mutations in the genes in the studied patients.
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