Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/6180
Title: A novel c.197T -> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency
Authors: Moura Neto, José Pereira de
Dourado, Marcos Vinícius
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
Affilliation: Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, Bahia, Brasil
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, Bahia, Brasil
Abstract: Glucose-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 Bahia
Keywords: Glucose-6-phosphate dehydrogenase deficiency
G6PD mutations
Neonatal screening
DeCS: Glucosefosfato Desidrogenase
Mutação
Sequência de Bases
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Brasil
Humanos
Masculino
Feminino
Recém-Nascido
Issue Date: 2008
Citation: 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.
ISSN: 1415-4757
Copyright: open access
Appears in Collections:BA - IGM - Artigos de Periódicos

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