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.
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.