Background: A relationship between polymorphism in the promoter region of the UGT1A1 gene (associated with Gilbert's syndrome) and the development of jaundice has recently been demonstrated. This polymorphism is due to (TA)7 instead of wild-type (TA)6.
Objective: To investigate the relationship between Gilbert's syndrome and neonatal jaundice by evaluating the distribution of (TA)7 in a population of newborns.
Methods: A total of 136 newborns were studied: 21 had neonatal jaundice, 69 were healthy and the remaining newborns had various diseases. DNA from each patient was used to amplify, by polymerase chain reaction, the promoter region of the UGT1A1 gene, which flanks the TATA box where the polymorphism is located.
Results: In the group without jaundice, 53 % of the newborns were normal (6/6 genotype), 40 % were 6/7 and 7 % were 7/7. In the group with jaundice, 33 % of the newborns were normal, 53 % were heterozygous (6/7) and 14 % were homozygous (7/7). Comparison of the groups revealed that the prevalence of UGTA1A polymorphism tended to be greater among jaundiced newborns (p 0.09).
Conclusion: The results of this study suggest that there is a relationship between neonatal jaundice and Gilbert's syndrome among the Spanish population. These results, together with those of other authors, suggest that genetic screening for Gilbert's syndrome should be included in the investigation of neonatal jaundice in our population. Further studies with a greater number of subjects would determine the exact relationship between marked neonatal jaundice and IGTA1A polymorphism. Key words: