Distribución del genotipo A(TA)7TAA asociado al síndrome de Gilbert en la población española

Abstract

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