title: A new case of (TA)8 allele in the UGT1A1 gene promoter in a Caucasian girl with Gilbert syndrome.
abstract: The authors describe a 5-year-old Caucasian girl, referred to their hospital for evaluation of an unconjugated hyperbilirubinemia (57.9 micromol/L) detected from blood analysis during an episode of fever. The molecular analysis of the TATA-box region of the UGT1A1 gene revealed that the patient was a compound heterozygote for two insertions, one TA and the other TATA [(TA)(7)/(TA)(8)]. This is the first case of (TA)8 allele found in a Portuguese Caucasian patient and the third found in the literature.
authors.affiliation: Serviço de Hematologia, Hospital de Crianças Maria Pia, Porto, Portugal.
authors.forename: Henrique
authors.initials: H
authors.lastname: Coelho
authors.forename: Elísio
authors.initials: E
authors.lastname: Costa
authors.forename: Emília
authors.initials: E
authors.lastname: Vieira
authors.forename: Rosa
authors.initials: R
authors.lastname: Branca
authors.forename: Rosário
authors.initials: R
authors.lastname: dos Santos
authors.forename: José
authors.initials: J
authors.lastname: Barbot
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D005260:Female; D005878:Gilbert Disease / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D011401:Promoter Regions, Genetic; D011446:Prospective Studies; D044465:White People / Q000235:genetics; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme