Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Tipo de documento: | Tese |
Idioma: | por |
Título da fonte: | Repositório Institucional da UFG |
Texto Completo: | http://repositorio.bc.ufg.br/tede/handle/tede/5654 |
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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Ávila, Marcos Pereira dehttp://lattes.cnpq.br/3335187297522447Taleb, Alexandre Chaterhttp://lattes.cnpq.br/3191620401627150Ávila, Marcos Pereira deTaleb, Alexandre ChaterAlves, Milton RuizRassi, Alan RicardoSilva, Leopoldo Magacho dos Santoshttp://lattes.cnpq.br/9331118322158078Reis, Leonardo Mariano2016-06-06T15:32:50Z2016-02-23REIS, 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.http://repositorio.bc.ufg.br/tede/handle/tede/5654ark:/38995/00130000029kzKeratoconus 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.O ceratocone é uma disfunção ocular não-inflamatória caracterizada por afinamento, protrusão e formato cônico da córnea. A progressão desta disfunção ocular induz a diminuição significativa da acuidade visual em pacientes e ocasionalmente, nos casos mais avançados, ao transplante de córnea. A etiologia do ceratocone é complexa e o componente genético está entre os principais fatores associados ao seu desenvolvimento. O objetivo deste estudo foi avaliar a ocorrência de mutação em loci gênicos candidatos e sua relação com ceratocone em pacientes atendidos no Brasil comparados a voluntários saudáveis, através da análise de polimorfismo de nucleotídeo único no gene DOCK9. Neste estudo clínico foram avaliados 108 indivíduos, sendo 46 pacientes com ceratocone e 62 voluntários saudáveis (controles). Amostras de DNA foram obtidas do sangue coletado de pacientes com ceratocone e controles para a realização de análise de genotipagem. O genótipo do polimorfismo de nucleotídeo único rs7995432 no gene DOCK9 foi determinado através de reação em cadeia da polimerase em tempo real (qPCR). As mutações de polimorfismos de nucleotídeo único foram observadas em pacientes e controles. Não foram observadas diferenças significativas na frequência e discriminação dos alelos mutante e selvagem entre os pacientes com ceratocone e os controles. A frequência do alelo mutante (C) foi de 4,8% para os pacientes e 7,6% para os controles. Para o alelo selvagem (T), as frequências foram de 95,2% para os pacientes e 92,4% para os controles. O genótipo heterozigótico esteve presente em 9,5% dos pacientes e 11% dos controles, enquanto o genótipo homozigótico para o alelo selvagem (TT) foi encontrado em 90,5% e 87% para os pacientes e controles, respectivamente. Assim, não foi possível fazer uma associação destas mutações com a ocorrência do ceratocone para esta população.Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2016-06-06T12:33:44Z No. of bitstreams: 2 Tese - Leonardo Mariano Reis - 2016.pdf: 3509741 bytes, checksum: e1f5a9a506233e87a4136a0c0016ae8e (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5)Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2016-06-06T15:32:50Z (GMT) No. of bitstreams: 2 Tese - Leonardo Mariano Reis - 2016.pdf: 3509741 bytes, checksum: e1f5a9a506233e87a4136a0c0016ae8e (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5)Made available in DSpace on 2016-06-06T15:32:50Z (GMT). No. of bitstreams: 2 Tese - Leonardo Mariano Reis - 2016.pdf: 3509741 bytes, checksum: e1f5a9a506233e87a4136a0c0016ae8e (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Previous issue date: 2016-02-23application/pdfporUniversidade Federal de GoiásPrograma de Pós-graduação em Ciências da Saúde (FM)UFGBrasilFaculdade de Medicina - FM (RG)http://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessOftalmologiaCeratoconeCórneaMutação genéticaSNPsOphthalmologyKeratoconusCorneaGenetic mutationSNPsMEDICINA::ANATOMIA PATOLOGICA E PATOLOGIA CLINICAAnálise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratoconeOccurrence analysis of a single nucleotide polymorphism of the gene DOCK9 in keratoconusinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/doctoralThesis-100686431261774531060060060015457724759504863387337577453819502453reponame:Repositório Institucional da UFGinstname:Universidade Federal de Goiás (UFG)instacron:UFGLICENSElicense.txtlicense.txttext/plain; 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dc.title.por.fl_str_mv |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone |
dc.title.alternative.eng.fl_str_mv |
Occurrence analysis of a single nucleotide polymorphism of the gene DOCK9 in keratoconus |
title |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone |
spellingShingle |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone Reis, Leonardo Mariano Oftalmologia Ceratocone Córnea Mutação genética SNPs Ophthalmology Keratoconus Cornea Genetic mutation SNPs MEDICINA::ANATOMIA PATOLOGICA E PATOLOGIA CLINICA |
title_short |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone |
title_full |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone |
title_fullStr |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone |
title_full_unstemmed |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone |
title_sort |
Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone |
author |
Reis, Leonardo Mariano |
author_facet |
Reis, Leonardo Mariano |
author_role |
author |
dc.contributor.advisor1.fl_str_mv |
Ávila, Marcos Pereira de |
dc.contributor.advisor1Lattes.fl_str_mv |
http://lattes.cnpq.br/3335187297522447 |
dc.contributor.advisor-co1.fl_str_mv |
Taleb, Alexandre Chater |
dc.contributor.advisor-co1Lattes.fl_str_mv |
http://lattes.cnpq.br/3191620401627150 |
dc.contributor.referee1.fl_str_mv |
Ávila, Marcos Pereira de |
dc.contributor.referee2.fl_str_mv |
Taleb, Alexandre Chater |
dc.contributor.referee3.fl_str_mv |
Alves, Milton Ruiz |
dc.contributor.referee4.fl_str_mv |
Rassi, Alan Ricardo |
dc.contributor.referee5.fl_str_mv |
Silva, Leopoldo Magacho dos Santos |
dc.contributor.authorLattes.fl_str_mv |
http://lattes.cnpq.br/9331118322158078 |
dc.contributor.author.fl_str_mv |
Reis, Leonardo Mariano |
contributor_str_mv |
Ávila, Marcos Pereira de Taleb, Alexandre Chater Ávila, Marcos Pereira de Taleb, Alexandre Chater Alves, Milton Ruiz Rassi, Alan Ricardo Silva, Leopoldo Magacho dos Santos |
dc.subject.por.fl_str_mv |
Oftalmologia Ceratocone Córnea Mutação genética SNPs |
topic |
Oftalmologia Ceratocone Córnea Mutação genética SNPs Ophthalmology Keratoconus Cornea Genetic mutation SNPs MEDICINA::ANATOMIA PATOLOGICA E PATOLOGIA CLINICA |
dc.subject.eng.fl_str_mv |
Ophthalmology Keratoconus Cornea Genetic mutation SNPs |
dc.subject.cnpq.fl_str_mv |
MEDICINA::ANATOMIA PATOLOGICA E PATOLOGIA CLINICA |
description |
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. |
publishDate |
2016 |
dc.date.accessioned.fl_str_mv |
2016-06-06T15:32:50Z |
dc.date.issued.fl_str_mv |
2016-02-23 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/doctoralThesis |
format |
doctoralThesis |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
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. |
dc.identifier.uri.fl_str_mv |
http://repositorio.bc.ufg.br/tede/handle/tede/5654 |
dc.identifier.dark.fl_str_mv |
ark:/38995/00130000029kz |
identifier_str_mv |
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. ark:/38995/00130000029kz |
url |
http://repositorio.bc.ufg.br/tede/handle/tede/5654 |
dc.language.iso.fl_str_mv |
por |
language |
por |
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dc.relation.confidence.fl_str_mv |
600 600 600 |
dc.relation.department.fl_str_mv |
1545772475950486338 |
dc.relation.cnpq.fl_str_mv |
7337577453819502453 |
dc.rights.driver.fl_str_mv |
http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by-nc-nd/4.0/ |
eu_rights_str_mv |
openAccess |
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application/pdf |
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Universidade Federal de Goiás |
dc.publisher.program.fl_str_mv |
Programa de Pós-graduação em Ciências da Saúde (FM) |
dc.publisher.initials.fl_str_mv |
UFG |
dc.publisher.country.fl_str_mv |
Brasil |
dc.publisher.department.fl_str_mv |
Faculdade de Medicina - FM (RG) |
publisher.none.fl_str_mv |
Universidade Federal de Goiás |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UFG instname:Universidade Federal de Goiás (UFG) instacron:UFG |
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UFG |
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Repositório Institucional da UFG |
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