Medicina clinica · 2000
[Distribution of the A(TA)7TAA genotype associated with Gilbert syndrome in the Spanish population].
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Fernández Salazar J M, Remacha Sevilla A, del Río Conde E, Baiget Bastús M
Аннотация
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.
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.