Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population
| Autor: | Gildásio Castello de Almeida Júnior, Ronan Marques Teixeira, Alessandro Garcia Lopes, Lilian Castiglioni, Cinara Cássia Brandão de Mattos, Luiz Carlos de Mattos |
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| Přispěvatelé: | Universidade Estadual Paulista (Unesp), Faculdade de Medicina de São José Do Rio Preto (FAMERP), Fundação Faculdade Regional de Medicina (HB-FUNFARME) |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male lcsh:Medicine medicine.disease_cause Polymerase Chain Reaction law.invention Corneal Diseases Cornea 0302 clinical medicine Superoxide Dismutase-1 law lcsh:QH301-705.5 Polymerase chain reaction Sequence Deletion education.field_of_study Mutation General Medicine Middle Aged Research Note medicine.anatomical_structure Female Brazil Polymorphism Restriction Fragment Length Adult Keratoconus Population SOD1 Superoxide Dismutase-1 gene Biology General Biochemistry Genetics and Molecular Biology 03 medical and health sciences Young Adult Genetic medicine Humans Polymorphism education lcsh:Science (General) Gene lcsh:R Intron Sequence Analysis DNA medicine.disease Molecular biology Introns 030104 developmental biology lcsh:Biology (General) 030221 ophthalmology & optometry lcsh:Q1-390 |
| Zdroj: | BMC Research Notes BMC Research Notes, Vol 13, Iss 1, Pp 1-7 (2020) Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP |
| ISSN: | 1756-0500 |
| Popis: | Made available in DSpace on 2020-12-12T02:14:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-07-09 Objective: 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. Biology Department Instituto de Biociências Letras e Ciências Exatas IBILCE-UNESP Universidade Estadual Paulista Júlio de Mesquita Filho, Rua Cristóvão Colombo, 2265 Immunogenetics Laboratory Molecular Biology Department Faculdade de Medicina de São José Do Rio Preto (FAMERP), Avenida Brigadeiro Faria Lima, 5416, Vila São Pedro Ophthalmology Outpatient Clinic Hospital de Base de São José Do Rio Preto Fundação Faculdade Regional de Medicina (HB-FUNFARME), Avenida Brigadeiro Faria Lima, 5544 Epidemiology and Health Department Faculdade de Medicina de São José Do Rio Preto (FAMERP), Avenida Brigadeiro Faria Lima, 5416, Vila São Pedro Biology Department Instituto de Biociências Letras e Ciências Exatas IBILCE-UNESP Universidade Estadual Paulista Júlio de Mesquita Filho, Rua Cristóvão Colombo, 2265 |
| Databáze: | OpenAIRE |
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