Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population

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Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorFaculdade de Medicina de São José Do Rio Preto (FAMERP)-
Autor(es): dc.contributorFundação Faculdade Regional de Medicina (HB-FUNFARME)-
Autor(es): dc.creatorLopes, Alessandro Garcia [UNESP]-
Autor(es): dc.creatorDe Almeida Júnior, Gildásio Castello-
Autor(es): dc.creatorTeixeira, Ronan Marques [UNESP]-
Autor(es): dc.creatorDe Mattos, Luiz Carlos-
Autor(es): dc.creatorBrandão De Mattos, Cinara Cássia-
Autor(es): dc.creatorCastiglioni, Lilian [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:31:35Z-
Data de disponibilização: dc.date.available2022-02-22T00:31:35Z-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-07-09-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1186/s13104-020-05166-3-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/200742-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/200742-
Descrição: dc.descriptionObjective: To determine the presence of the 7-bp deletion c.169+50delTAAACAG in intron 2 of Superoxide Dismutase-1 gene in keratoconic patients from the State of São Paulo, Brazil, which promotes splicing variations, resulting in non-functional Superoxide Dismutase-1 antioxidant proteins, which may damage the corneal structure. Results: A group of 35 keratoconic patients, from whom 35 peripheral blood samples and 58 samples of corneal fragments were evaluated, and a control group of 89 individuals, from whom 41 blood samples and 149 samples of corneal fragments were collected. After the amplification of DNA fragments by polymerase chain reaction, mutational screening analysis was performed by enzymatic digestion, followed by direct sequencing. The absence of the 7-bp c.169+50delTAAACAG mutation in intron 2 of Superoxide Dismutase-1 gene was detected in the analyzed subjects of the 2 groups, both in the cornea and peripheral blood samples. Then, according to our results, there is no involvement of c.169+50delTAAACAG deletion in the pathogenesis of keratoconus in this population, once it was not detected. But we emphasize that studies involving this deletion must be continued in an attempt to elucidate this issue.-
Descrição: dc.descriptionBiology Department Instituto de Biociências Letras e Ciências Exatas IBILCE-UNESP Universidade Estadual Paulista Júlio de Mesquita Filho, Rua Cristóvão Colombo, 2265-
Descrição: dc.descriptionImmunogenetics Laboratory Molecular Biology Department Faculdade de Medicina de São José Do Rio Preto (FAMERP), Avenida Brigadeiro Faria Lima, 5416, Vila São Pedro-
Descrição: dc.descriptionOphthalmology Outpatient Clinic Hospital de Base de São José Do Rio Preto Fundação Faculdade Regional de Medicina (HB-FUNFARME), Avenida Brigadeiro Faria Lima, 5544-
Descrição: dc.descriptionEpidemiology and Health Department Faculdade de Medicina de São José Do Rio Preto (FAMERP), Avenida Brigadeiro Faria Lima, 5416, Vila São Pedro-
Descrição: dc.descriptionBiology Department Instituto de Biociências Letras e Ciências Exatas IBILCE-UNESP Universidade Estadual Paulista Júlio de Mesquita Filho, Rua Cristóvão Colombo, 2265-
Idioma: dc.languageen-
Relação: dc.relationBMC Research Notes-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectCornea-
Palavras-chave: dc.subjectCorneal Diseases-
Palavras-chave: dc.subjectGenetic-
Palavras-chave: dc.subjectKeratoconus-
Palavras-chave: dc.subjectPolymorphism-
Palavras-chave: dc.subjectSuperoxide Dismutase-1 gene-
Título: dc.titleAbsence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population-
Tipo de arquivo: dc.typelivro digital-
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