A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

Detalhes bibliográficos
Autor(a) principal: Moura Neto, José Pereira de
Data de Publicação: 2008
Outros Autores: Dourado, Marcos Vinícius, Reis, Mitermayer Galvão dos, Gonçalves, Marilda de Souza
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/6180
Resumo: Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, Bahia, Brasil
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spelling Moura Neto, José Pereira deDourado, Marcos ViníciusReis, Mitermayer Galvão dosGonçalves, Marilda de Souza2013-01-14T17:52:36Z2013-01-14T17:52:36Z2008MOURA NETO, J. P. de et al. A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency. Genetics and Molecular Biology, v. 31, n. 1, p. 33-35, 2008.1415-4757https://www.arca.fiocruz.br/handle/icict/6180engA novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiencyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, Bahia, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, Bahia, BrasilGlucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49) deficiency is the most common enzyme deficiency worldwide, causing a spectrum of diseases including neonatal hyperbilirubinemia and acute or chronic hemolysis. We used the methemoglobin reduction test and G6PD electrophoresis to screen 655 neonates (354 females and 301 males) for common G6PD mutations in the city of Salvador in the Northeastern Brazilian state Bahia and found that 66 (10.1%) were G6PD-deficient (41 females and 25 males). The 66 (10.1%) G6PD-deficient neonates were assessed for the c.376 A → G (exon 5) and c.202 G → A (exon 4) mutations using the polymerase chain reaction and restriction enzyme fragment length polymorphism (PCR-RFLP) analysis and the results validated by DNA sequencing. Of the 66 G6PD-deficient neonates investigated we found that 54 (81.8%) presented the c.376 A → G (p.Asn126Asp) and c.202 G→A (p.Val68Met) mutations, two (3%) had the c.376 A→G mutation only, two (3%) had the c.202 G→A mutation only, five (7.6%) exhibited a previously unrecorded 197T→A (p.Phe66Thr) substitution in exon 4 and three showed no mutations at any of these sites. Of the five neonates exhibiting the new 197T → A (p.Phe66Thr) substitution, four (6.1%) also presented the c.202 G → A and c.376 A → G mutations and one (1.5%) had the c.[197T → A / 202 G → A] combination. We propose to name the new variant G6PD BahiaGlucose-6-phosphate dehydrogenase deficiencyG6PD mutationsNeonatal screeningGlucosefosfato DesidrogenaseMutaçãoSequência de BasesReação em Cadeia da PolimerasePolimorfismo de Fragmento de RestriçãoBrasilHumanosMasculinoFemininoRecém-Nascidoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALMoura Neto, José Pereira de. et al. A novel....pdfMoura Neto, José Pereira de. et al. A novel....pdfapplication/pdf56807https://www.arca.fiocruz.br/bitstream/icict/6180/1/Moura%20Neto%2c%20Jos%c3%a9%20Pereira%20de.%20et%20al.%20A%20novel....pdfffc4c256733236ce3ea34ed0471ffeddMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/6180/2/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD52TEXTMoura Neto, José Pereira de. et al. A novel....pdf.txtMoura Neto, José Pereira de. et al. 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dc.title.pt_BR.fl_str_mv A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
title A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
spellingShingle A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
Moura Neto, José Pereira de
Glucose-6-phosphate dehydrogenase deficiency
G6PD mutations
Neonatal screening
Glucosefosfato Desidrogenase
Mutação
Sequência de Bases
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Brasil
Humanos
Masculino
Feminino
Recém-Nascido
title_short A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
title_full A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
title_fullStr A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
title_full_unstemmed A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
title_sort A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
author Moura Neto, José Pereira de
author_facet Moura Neto, José Pereira de
Dourado, Marcos Vinícius
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
author_role author
author2 Dourado, Marcos Vinícius
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
author2_role author
author
author
dc.contributor.author.fl_str_mv Moura Neto, José Pereira de
Dourado, Marcos Vinícius
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
dc.subject.en.pt_BR.fl_str_mv Glucose-6-phosphate dehydrogenase deficiency
G6PD mutations
Neonatal screening
topic Glucose-6-phosphate dehydrogenase deficiency
G6PD mutations
Neonatal screening
Glucosefosfato Desidrogenase
Mutação
Sequência de Bases
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Brasil
Humanos
Masculino
Feminino
Recém-Nascido
dc.subject.decs.pt_BR.fl_str_mv Glucosefosfato Desidrogenase
Mutação
Sequência de Bases
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Brasil
Humanos
Masculino
Feminino
Recém-Nascido
description Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, Bahia, Brasil
publishDate 2008
dc.date.issued.fl_str_mv 2008
dc.date.accessioned.fl_str_mv 2013-01-14T17:52:36Z
dc.date.available.fl_str_mv 2013-01-14T17:52:36Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.citation.fl_str_mv MOURA NETO, J. P. de et al. A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency. Genetics and Molecular Biology, v. 31, n. 1, p. 33-35, 2008.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/6180
dc.identifier.issn.none.fl_str_mv 1415-4757
identifier_str_mv MOURA NETO, J. P. de et al. A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency. Genetics and Molecular Biology, v. 31, n. 1, p. 33-35, 2008.
1415-4757
url https://www.arca.fiocruz.br/handle/icict/6180
dc.language.iso.fl_str_mv eng
language eng
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dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
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