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A novel c.197T ® A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency Genet. Mol. Biol.
Moura Neto,José Pereira de; Dourado,Marcos Vinícius; Reis,Mitermayer Galvão dos; Gonçalves,Marilda Souza.
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...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Glucose-6-phosphate dehydrogenase deficiency; G6PD mutations; Neonatal screening.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100006
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