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 μmol/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.

Keywords:

• bilirubin
• Gilbert syndrome
• hyperbilirubinemia
• UGT1A1