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A NOVEL C.197T -> A VARIANT AMONG BRAZILIAN NEONATES WITH GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
G6PD mutations
Neonatal screening
Mutação
Sequência de Bases
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Brasil
Humanos
Masculino
Feminino
Recém-Nascido
Autor
Afiliación
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
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
Resumen en ingles
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
Palabras clave en ingles
Glucose-6-phosphate dehydrogenase deficiencyG6PD mutations
Neonatal screening
DeCS
Glucosefosfato DesidrogenaseMutação
Sequência de Bases
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Brasil
Humanos
Masculino
Feminino
Recém-Nascido
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