A new case of (TA)8 allele in the UGT1A1 gene promoter in a Caucasian girl with Gilbert syndrome.
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.
Coelho
Henrique
H
Serviço de Hematologia, Hospital de Crianças Maria Pia, Porto, Portugal.
Costa
Elísio
E
Vieira
Emília
E
Branca
Rosa
R
dos Santos
Rosário
R
Barbot
José
J
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
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme