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  • UGT1A1(TA)n promoter polymorphism-A new case of a (TA)8 allele in Caucasians
    Ostanek, Barbara, 1972- ...
    Gilbert's syndrome is a mild hereditary unconjugated hyperbilirubinemia causedby mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1).The causative mutation in Caucasians is almost ... exclusively a TA dinucleotide insertion in the TATA box of the UGT1A1 promoter. Affected individuals are homozygous for the variant promoter and have 7 instead of 6 TArepeats. The aim of the present study was to determine the genotypes of UGT1A1(TA)n promoter polymorphism in the healthy Slovenian population and to investigate the association of genotypes with serum bilirubin levels. 236 healthy subjects were genotyped by single-strand conformation polymorphism analysis, which was validated by sequence analysis. The frequencies of genotypes were as followsČ (TA)6ž6 (38.1%), (TA)6ž7 (47.9%), (TA)7ž7 (13.6%). There was a statistically significant association of genotypes with serum bilirubin levels (p < 0.001). Subjects with genotype (TA)7ž7 had the highest and subjects with genotype (TA)6ž6 the lowest total serum bilirubin levels. One individual in the group had the rare genotype (TA)7ž8 (0.4%). Analysis of his family showed the following genotypesČ (TA)6ž8 in his father and sister and (TA)7ž8 in his two brothers. In conclusion, the frequency of UGT1A1(TA)n promoter polymorphism genotypes was determined for the first time in the Slovenian population and is similar to frequencies observed in other Caucasian populations. The extremely rare (TA)8 allele in Caucasians was found also in Slovenians.
    Vir: Blood cells, molecules & diseases. - ISSN 1079-9796 (Vol. 38, no. 2, 2007, str. 78-82)
    Vrsta gradiva - članek, sestavni del
    Leto - 2007
    Jezik - angleški
    COBISS.SI-ID - 2067825

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