Identification of deletions and duplications in the CYP2E1 gene in a population in Goiânia – GO by MLPA.

Autores

  • Lucas Carlos Gomes Pereira Universidade Federal de Goiás
  • Nádia Aparecida Bérgamo Universidade Federal de Goiás
  • Elisângela de Paula Silveira-Lacerda Universidade Federal de Goiás

DOI:

https://doi.org/10.5433/1679-0367.2017v38n1suplp187

Palavras-chave:

Cytochrome P450, CYP2E1, Alcohol

Resumo

Human CYPs are important in physiology, drug metabolism, and pathogenesis of certain diseases, and there is a strong need to explore the genetic variations and regulatory mechanisms of these enzymes. Mutations in CYP genes leading to deficiency in the enzymes result in a wide spectrum of human diseases. The aim of the present study was to investigate, the importance of CYP2E1 genetic polymorphisms in the health population in Goiânia. The study was performed acording approved by the ethics committee of Federal University of Goias (approval CEP: 895.552). In the current survey, 100 patients (35M/65F) of both genders and aged 18-90 (M: 30.2) years old were enrolled after receiving their informed consent. The Multiplex ligation-dependent probe amplification (MLPA) was performed using the P128 CYP450 MLPA kit (Version C1; MRC-Holland, Amsterdam, The Netherlands) according to the manufacturer’s instructions. This gene is located on chromossome 10 and has 9 exons, but only 3 (5, 6 and 8) were analyzed. In the exon 5 was found (2 duplications and 3 deletions), exon 6 (2 duplications and 2 deletions) and the exon 8 (3 duplications and 2 deletions). This gene is the second responsible for the metabolism of alcohol in the body, after the enzyme alcohol dehydrogenase and therefore the importance of checking what these deletions and duplications can cause in the body. Is the first time this methodology is used, and we believe it is a great tool for future studies with other genes.

Biografia do Autor

Lucas Carlos Gomes Pereira, Universidade Federal de Goiás

Aluno do Programa de Pós-Graduação em Biologia Universidade Federal de Goiás, Goiânia – GO

Nádia Aparecida Bérgamo, Universidade Federal de Goiás

Docente, Instituto de Ciências Biológicas, UFG, Goiânia-GO

Elisângela de Paula Silveira-Lacerda, Universidade Federal de Goiás

Docente, Instituto de Ciências Biológicas, UFG, Goiânia-GO

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Publicado

2018-02-16

Como Citar

1.
Pereira LCG, Bérgamo NA, Silveira-Lacerda E de P. Identification of deletions and duplications in the CYP2E1 gene in a population in Goiânia – GO by MLPA. Semin. Cienc. Biol. Saude [Internet]. 16º de fevereiro de 2018 [citado 18º de julho de 2024];38(1supl):187. Disponível em: https://ojs.uel.br/revistas/uel/index.php/seminabio/article/view/29458