A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with...

• Author(s): Coelho, Henrique ; Costa, Elísio ; Branca, Rosa ; Santos, Rosário ; Barbot, José
• Date: 2004
• Persistent ID: http://hdl.handle.net/10198/492
• Origin: Biblioteca Digital do IPB
• Subject(s): UGT1A1; Gilbert syndrome; Bilirubin; Hyperbilirubinemia
• Document Type: Article
• Language: English

Description

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.