[Distribution of the A(TA)7TAA genotype associated with Gilbert syndrome in the Spanish population]

Med Clin (Barc). 2000 Oct 28;115(14):540-1.
[Article in Spanish]

Abstract

Background: We have examined the variation in the promoter region in the gene encoding UGT-1, associated with Gilbert's syndrome, in Spanish population.

Patients and method: Blood DNA was obtained from 100 blood donors. Polymerase chain reaction (PCR) was used to examine the A(TA)nTAA motif in the promoter region of the UGT-1 gene.

Results: The frequency of the abnormal 7/7 genotype in Spanish population was 9%. The heterozygous 6/7 genotype was identified in 51% of the subjects.

Conclusions: The frequency of the abnormal allele, similar in different caucasian populations, raise the question whether it would be worthwhile and cost-effective to introduce molecular screening for Gilbert's syndrome in the study of mild, chronic unconjugated hyperbilirubinemia, in the absence of haemolysis or evidence of hepatic injury.

Publication types

  • English Abstract

MeSH terms

  • Alleles*
  • Blood Donors
  • Genotype
  • Gilbert Disease / genetics*
  • Glucuronosyltransferase / genetics*
  • Humans
  • Mutation / genetics
  • Promoter Regions, Genetic / genetics*
  • Spain / ethnology

Substances

  • Glucuronosyltransferase