Literature DB >> 15205079

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

Henrique Coelho1, Elísio Costa, Emília Vieira, Rosa Branca, Rosário dos Santos, José Barbot.   

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.

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Year:  2004        PMID: 15205079     DOI: 10.1080/08880010490457033

Source DB:  PubMed          Journal:  Pediatr Hematol Oncol        ISSN: 0888-0018            Impact factor:   1.969


  1 in total

1.  The Association between Prolonged Jaundice and UGT1A1 Gene Polymorphism (G71R) in Gilbert's Syndrome.

Authors:  Ehsan Alaee; Behnaz Bazrafshan; Ali Reza Azaminejad; Mahnaz Fouladinejad; Majid Shahbazi
Journal:  J Clin Diagn Res       Date:  2016-11-01
  1 in total

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