Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone
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Data
2016-02-23
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Universidade Federal de Goiás
Resumo
Keratoconus is a non-inflammatory ocular dysfunction characterized by thinning, protrusion
and conical shape of the cornea. The progression of this dysfunction leads to significant
decrease in visual acuity and occasionally, in more severe cases, to corneal transplantation.
The etiology of keratoconus is complex and the genetic component is among the main factors
associated with the development of this disease. The objective of this study was to evaluate
the occurrence of mutation in candidate genetic loci and its relation with keratoconus in
patients attended in Brazil compared to healthy volunteers, through analysis of single
nucleotide polymorphism in the gene DOCK9. In this clinical study, 108 participants were
evaluated: 46 keratoconus patients and 62 healthy volunteers (controls). DNA samples were
extracted from collected blood from keratoconus patients and controls. The genotyping of the
single nucleotide polymorphism rs7995432 in the gene DOCK9 was determined through realtime
polymerase chain reaction (qPCR). Single nucleotide polymorphism mutations were
observed in both patients and controls. There were no significant differences on the frequency
and discrimination of the mutant and wild alleles between patients and controls. The
frequency of the mutant allele (C) was 4.8% in patients and 7.6% in controls. For the wild
allele (T), the frequencies were 95.2% in patients and 92.4% in controls. The heterozygous
genotype was present in 9.5% of patients and 11% of controls, while the homozygous
genotype for the wild allele (TT) was found in 90.5% and 87% for patients and controls,
respectively. Thus, these results confirm no association of these mutations and the occurrence
of keratoconus for this population.
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Palavras-chave
Oftalmologia , Ceratocone , Córnea , Mutação genética , SNPs , Ophthalmology , Keratoconus , Cornea , Genetic mutation , SNPs
Citação
REIS, L. M. Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone. 2016. 56 f. Tese (Doutorado em Ciências da Saúde) - Universidade Federal de Goiás, Goiânia, 2016.