Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome.
The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns. The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing severe hyperbilirubinemia and in control subjects from the same population. This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn.
Galanello
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Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Ospedale Regionale per le Microcitemie ASL 8, Via Jenner s.n., I-09121 Cagliari, Italy. renzo.galanello@mcweb.unica.it
Cipollina
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Carboni
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Perseu
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Barella
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Corrias
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D000328:Adult; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D005878:Gilbert Disease / Q000175:diagnosis / Q000503:physiopathology*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D012016:Reference Values; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D000099237:UDP-Galactose Translocators
D005954:Glucosephosphate Dehydrogenase; D009004:Monosaccharide Transport Proteins; D000099237:UDP-Galactose Translocators